A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 5-6, 2013, Pages 575-577

  Wada, Keiko ^a   Harada, Daisuke ^a   Nakano, Yukako ^a   Kashiwagi, Hiroko ^a   Yamashita, Sumie ^a   Sano, Tetsuya ^a   Michigami, Toshimi ^b   Tachikawa, Kanako ^b  

^a OSAKA KOSEI NENKIN HOSPITAL   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

mutation; osteopetorosis; TCIRG1

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME;

ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE II; BIRTH WEIGHT; BLINDNESS; BODY HEIGHT; BODY WEIGHT; BONE DENSITY; CASE REPORT; CHILD; CLINICAL FEATURE; DENTAL CARIES; DUAL ENERGY X RAY ABSORPTIOMETRY; ENZYME BLOOD LEVEL; FEMUR FRACTURE; GENE AMPLIFICATION; GENE SEQUENCE; GESTATIONAL AGE; HUMAN; LUMBAR SPINE; MALE; MISSENSE MUTATION; NERVE ENDING; OPTIC NERVE ATROPHY; OSTEOCLAST; OSTEOCLAST ACTIVITY; PELVIS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; RADIUS FRACTURE; SKELETON RADIOGRAPHY; SKULL BASE; VERTEBRA;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; GENES, DOMINANT; HUMANS; MALE; OSTEOPETROSIS; RIBS; SPINE; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84879051052     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2013-0007     Document Type: Article

References (5)

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