A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.

Ito, Y A

A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys. [electronic resource] - Clinical genetics 10 2018 - 303-312 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/cge.13388 doi


Abnormalities, Multiple--genetics
Alopecia--genetics
Child, Preschool
Facies
Female
Genes, Recessive
Growth Disorders--genetics
Humans
Kidney--abnormalities
Male
Membrane Transport Proteins--genetics
Microcephaly--genetics
Mutation