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Prenatal diagnosis of a 14-Mb 11p11.2-p13 deletion by chromosome microarray analysis in a pregnancy with fetal recombinant chromosome 11 syndrome of rec(11)del(11)(p11.2p13)ins(11)(q21p11.2p13) and maternal intrachromosomal insertion of ins(11)(q21p11.2p13).
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
PHF21A Related Disorder: Description of a New Case.
Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses.
Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies.