Craniometaphyseal dysplasia and chondrocalcinosis cosegregating in a family with an ANKH mutation

American Journal of Medical Genetics, Part A

Volumn 149, Issue 6, 2009, Pages 1331-1333

  Baynam, Gareth ^a,b   Goldblatt, Jack ^a,b   Schofield, Lyn ^a  

^a KING EDWARD MEMORIAL HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROTEIN ANKH; UNCLASSIFIED DRUG;

ANAMNESIS; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; CASE REPORT; CHILD; CHONDROCALCINOSIS; CLINICAL FEATURE; CRANIOMETAPHYSEAL DYSPLASIA; DISEASE ASSOCIATION; GENE MUTATION; GENETIC COUNSELING; HUMAN; LETTER; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN TRANSPORT;

ADULT; CHONDROCALCINOSIS; FAMILY; HUMANS; INFANT; MALE; MUTATION; PHOSPHATE TRANSPORT PROTEINS;

EID: 66349090163     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32875     Document Type: Letter

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