Article
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Clinical genetics - 1 Oct 2018
Ito Y A, Smith A C, Kernohan K D, Pena I A, Ahmed A, McDonell L M, Beaulieu C, Bulman D E, Smidt A, Sawyer S L, Dyment D A, Boycott K M, Clericuzio C L
Abstract excerpt
A novel autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, early mortality, hydrocephalus, and genital hypoplasia was observed in 4 children from 3 families of New Mexican Hispanic...
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