P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes

European Journal of Medical Genetics

Volumn 51, Issue 4, 2008, Pages 351-357

  Hirshoren, Nir ^a   Gross, Menachem ^a   Banin, Eyal ^a   Sosna, Jacob ^a   Bargal, Ruth ^a   Raas Rothschild, Annick ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Brachydactyly type B; Joints fusion; NOG; Stapes ankylosis; Symphalangism; Teunissen Cremers

Indexed keywords

NOGGIN;

ADULT; ANKYLOSIS; ARTHRODESIS; ARTICLE; BRACHYDACTYLY; CASE REPORT; CATARACT; CONDUCTION DEAFNESS; CONTRACTURE; FEMALE; GENE MUTATION; HAND RADIOGRAPHY; HUMAN; HUMAN TISSUE; HYPERMETROPIA; JOINT MALFORMATION; NOG GENE; PHENOTYPE; SKELETON MALFORMATION; SYNDROME; TEUNISSEN CREMERS SYNDROME;

EID: 47549110956     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.02.008     Document Type: Article

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