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