TY  - GEN
AU  - Morava,Eva
AU  - Kühnisch,Jirko
AU  - Drijvers,Jefte M
AU  - Robben,Joris H
AU  - Cremers,Cor
AU  - van Setten,Petra
AU  - Branten,Amanda
AU  - Stumpp,Sabine
AU  - de Jong,Alphons
AU  - Voesenek,Krysta
AU  - Vermeer,Sascha
AU  - Heister,Angelien
AU  - Claahsen-van der Grinten,Hedi L
AU  - O'Neill,Charles W
AU  - Willemsen,Michèl A
AU  - Lefeber,Dirk
AU  - Deen,Peter M T
AU  - Kornak,Uwe
AU  - Kremer,Hannie
AU  - Wevers,Ron A
TI  - Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family
SN  - 1945-7197
PY  - 2011///0204
KW  - Ankylosis
KW  - genetics
KW  - Bone Diseases, Metabolic
KW  - Calcinosis
KW  - Consanguinity
KW  - Deafness
KW  - Humans
KW  - Hypophosphatemia
KW  - Intellectual Disability
KW  - Joints
KW  - pathology
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Phosphate Transport Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1210/jc.2010-1539
ER  -