Article
Phenotypic heterogeneity of ZMPSTE24 deficiency.
American journal of medical genetics. Part A - 1 May 2018
Cassini Thomas A, Robertson Amy K, Bican Anna G, Cogan Joy D, Hannig Vickie L, Newman John H, Hamid Rizwan, Phillips John A
Abstract excerpt
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18)....
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