TY  - GEN
AU  - Nizon,Mathilde
AU  - Alanay,Yasemin
AU  - Tuysuz,Beyhan
AU  - Kiper,Pelin Ozlem Simsek
AU  - Geneviève,David
AU  - Sillence,David
AU  - Huber,Celine
AU  - Munnich,Arnold
AU  - Cormier-Daire,Valérie
TI  - IMPAD1 mutations in two Catel-Manzke like patients
SN  - 1552-4833
PY  - 2012///1109
KW  - Hand Deformities, Congenital
KW  - enzymology
KW  - Humans
KW  - Mutation
KW  - Phosphoric Monoester Hydrolases
KW  - genetics
KW  - Pierre Robin Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.a.35504
ER  -