Cleft Lip and Palate is Common in PORCN-Related Focal Dermal Hypoplasia in Asians: Three New Case Reports and Literature Review.

Case of a Male Patient With Focal Dermal Hypoplasia (Goltz Syndrome), Esophageal Polyps, Scoliosis, and Bicuspid Aortic Valve.

Focal dermal hypoplasia with clinical features mimicking classic hypohidrotic ectodermal dysplasia and cardiofaciocutaneous syndrome.

Treatment of a case with short stature and Goltz syndrome with long-acting growth hormone: a case report and follow-up.

A Prenatal Case of Focal Dermal Hypoplasia With Split Hand/Foot Malformation, Lack of Characteristic Skin Findings, Renal Agenesis, and Coloboma Due To a Novel PORCN Variant.

Focal Dermal Hypoplasia with Unusual Cardiac Anomalies Presentation: A Report of Two Cases and Literature Review.

Patient with papillomatous lesions.

Focal dermal hypoplasia - A report of two cases with review of literature.

Focal dermal hypoplasia: a probable underrecognized low bone mass disorder secondary to aberrant Wnt signaling.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Focal dermal hypoplasia (Goltz syndrome) with concurrent growth hormone deficiency and response to therapy.

Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report.

Focal dermal hypoplasia: The conflicting characteristics of prenatal and long-term follow-up images of skin anomalies.

Focal dermal hypoplasia (Goltz Syndrome): A preterm neonate with multisystem anomalies-A case report.

Prevalence rates for ectodermal dysplasia syndromes.

Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues.

A Long-Term Follow-Up of a Patient with a Novel PORCN Variant and Additional Clinical Features.

Postmortem 7T MRI in Goltz-Gorlin Syndrome: Insights into fetal anomalies beyond conventional imaging techniques.

[Focal dermal hypoplasia associated with pathogenic PORCN gene variant in postzygotic, unilateral mosaic form].

Dentofacial manifestations of a Paediatric patient with Goltz-Gorlin Syndrome.

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.

Case Report: Papillary thyroid carcinoma in Goltz-Gorlin syndrome.

Esophageal Manifestations of Dermatological Diseases, Diagnosis and Management.

Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia.

Focal Dermal Hypoplasia: Case Series.

A novel large deletion mutation involving the PORCN gene in a Chinese patient with focal dermal hypoplasia and literature review.

Urogenital presentation of a male patient with focal dermal hypoplasia.

Extensive blaschkoid macules and patches since birth.

Goltz Syndrome Combined with Triple X Syndrome, a Case Report.

Porcn is essential for growth and invagination of the mammalian optic cup.

Nevus lipomatosus superficialis, an unusual case report.

Focal Dermal Hypoplasia with Osteopathia Striata.

Focal Dermal Hypoplasia (Goltz Syndrome): A Rare Case.

Progression and flaring of focal dermal hypoplasia during an acute illness.

Fat herniation over striae distansea in focal dermal hypoplasia treated with 2940 nm Er:YAG Laser.

Focal Dermal Hypoplasia (Goltz Syndrome): A Case Report Showing a Wide Variety of Systemic and Oral Manifestations.

Novel uses of laser therapy in Goltz syndrome.

Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Angioma-serpiginosum-like and hyperkeratotic lesions in a patient with Goltz syndrome.

Structural model of human PORCN illuminates disease-associated variants and drug-binding sites.

Odyssey toward an understanding of acquired postinflammatory lentiginosis.

Determination of the membrane topology of PORCN, an O-acyl transferase that modifies Wnt signalling proteins.

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

The PORCN non-Goltz spectrum (PONGOS): A new group of genetic disorders.

Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.

Tonsillar fat herniation: A novel finding in Goltz syndrome.

A Rare Case of Mainly Unilateral Focal Dermal Hypoplasia (Goltz Syndrome) in an Adult Male: A Case Report and Review of the Literature.

Stromal Vascular Fraction and its Role in the Management of Alopecia: A Review.

Multiple cutaneous and skeletal abnormalities in an 8-month-old boy.

Implementation of high-resolution melting analysis of the porcupine (PORCN) gene for molecular diagnosis of focal dermal hypoplasia: Identification of a novel mutation.

Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK.

Fragmented Elastic Fibers in Focal Dermal Hypoplasia (Goltz-Gorlin Syndrome) Without Focal Dermal Hypoplasia: Report of a Male Case and Review of the Literature.

Band-like Lipomatous Metaplasia of the Superficial Dermis and Nonseptate Subcutaneous Tissue: A Rare Histopathological Phenomenon With Ultrasonographic Correlation.

Papillomas in Goltz syndrome: case report, anaesthetic considerations, and review of the literature.

Goltz-Gorlin syndrome: a rare cause of ectrodactyly.

Goltz syndrome: Primary diagnosis by an ophthalmologist.

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.

A Case of Focal Dermal Hypoplasia (Goltze Syndrome) Masquerading as Lingual Tonsillar Hypertrophy.

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

A 3-month-old with papules and plaques in a blaschkoid distribution.

A rose is a rose: naevoid manifestations blur the boundary between naevus and classical gene defect in focal dermal hypoplasia.

Postzygotic mosaicism in a woman with Goltz syndrome mimics segmental angioma serpiginosum.

Growth failure in focal dermal hypoplasia.

Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature.

Argon Plasma Coagulation as a Treatment of Multiple Esophageal Papillomata in a Girl With Goltz Syndrome.

Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.

Focal dermal hypoplasia: A novel finding in disguise.

Unilateral Focal Dermal Hypoplasia (Goltz Syndrome): Case Report and Literature Review.

Extensive Mucocutaneous Papillomas in a Case of Focal Dermal Hypoplasia.

[Focal dermal hypoplasia (Goltz syndrome)].

A Novel PORCN Frameshift Mutation Leading to Focal Dermal Hypoplasia: A Case Report.

Dysregulation of NEUROG2 plays a key role in focal cortical dysplasia.

Goltz-Gorlin Syndrome: Revisiting the Clinical Spectrum.

Esophageal Squamous Cell Papillomatosis Arising in Focal Dermal Hypoplasia in a 3-Year-Old Girl.

Multiple Eyelid Cysts (Apocrine and Eccrine Hidrocystomas, Trichilemmal Cyst, and Hybrid Cyst) in a Patient With a Prolactinoma.

Erythematous and hypopigmented streaks of thinned dermis along Blaschko's lines.

Focal Dermal Hypoplasia (Goltz Syndrome): A Cross-sectional Study from Eastern India.

Laser-Induced Neocollagenesis in Focal Dermal Hypoplasia Associated With Goltz Syndrome in a Girl.

[Focal dermal hypoplasia (Goltz syndrome) associated with bicuspid aortic valve].

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

An in vitro fatty acylation assay reveals a mechanism for Wnt recognition by the acyltransferase Porcupine.

A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia.

Esophageal squamous papillomas with focal dermal hypoplasia and eosinophilic esophagitis.

Focal dermal hypoplasia: inheritance from father to daughter.

Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients.

Almost Unilateral Focal Dermal Hypoplasia.

Cross-Sectional Study Evaluating Skin, Hair, Nail, and Bone Disease in Patients with Focal Dermal Hypoplasia.

Two female cases of focal dermal hypoplasia: One new case with a novel variant in PORCN (c.808_811delGGGG).

Focal Dermal Hypoplasia with a De novo Mutation p.E300* of PORCN Gene in a Male Infant.

An Unexpected Airway Complication in a Male Patient with Goltz Syndrome.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.

Management of pedal fibrovascular papillomas in Goltz-Gorlin syndrome.

Goltz syndrome: a rare case of father-to-daughter transmission.

Multiple eccrine axillary hidrocystomas.

[Focal dermal hypoplasia (Goltz-Gorlin syndrome) : The cause is now known].

Gynecologic findings in Goltz syndrome: A case series.

Ophthalmologic manifestations of focal dermal hypoplasia (Goltz syndrome): A case series of 18 patients.

Growth, nutritional, and gastrointestinal aspects of focal dermal hypoplasia (Goltz-Gorlin syndrome).

Blaschkoid Skin Lesions in a Young Girl.

Revisiting histopathologic findings in Goltz syndrome.

Focal Dermal Hypoplasia or Goltz Syndrome: A Rare Association with Keratoconus.

Ocular manifestations of genetic skin disorders.

In memoriam--A salute to Dr. Carlos F. Salinas and Dr. Robert Goltz.

The orthopedic characterization of Goltz syndrome.

Dermatologic findings of focal dermal hypoplasia (Goltz syndrome).

Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.

Oral phenotype and variation in focal dermal hypoplasia.

International research symposium on Goltz syndrome.

Genetically engineered mouse models to evaluate the role of Wnt secretion in bone development and homeostasis.

Cognitive and psychological functioning in focal dermal hypoplasia.

Goltz syndrome and PORCN: A view from Europe.

Linear Scars in a 4-Week-Old Girl.

Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia.

Pharyngeal Presentation of Goltz Syndrome: A Case Report with Review of the Literature.

Focal Dermal Hypoplasia Due to De Novo Mutation c.1061T>C(p.Leu354Pro) in the PORCN Gene: Importance of Early Diagnosis and Multidisciplinary Follow-Up.

DETECTING PORCN MICRODELETIONS IN A LARGE FAMILY WITH FOCAL DERMAL HYPOPLASIA.

Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance.

Blaschko Linear Enamel Defects - A Marker for Focal Dermal Hypoplasia: Case Report of Focal Dermal Hypoplasia.

Aplasia cutis congenita: report of 22 cases.

Goltz syndrome: a newborn with ectrodactyly and skin lesions.

Severe abdominal wall defect leading to dehiscence in focal dermal hypoplasia (Goltz syndrome).

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Focal dermal hypoplasia: a rare case report.

Mosaic focal dermal hypoplasia caused by a novel somatic mutation in PORCN detected in affected skin.