A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2

European Journal of Human Genetics

Volumn 14, Issue 12, 2006, Pages 1248-1254

  Lehmann, Katarina ^a   Seemann, Petra ^b   Boergermann, Jan ^c   Morin, Gilles ^d   Reif, Silke ^e   Knaus, Petra ^c   Mundlos, Stefan ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c FREIE UNIVERSITÄT BERLIN   (Germany)

^d Service de Génétique clinique   (France)

^e MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; BONE MORPHOGENETIC PROTEIN RECEPTOR; BONE MORPHOGENETIC PROTEIN RECEPTOR 1B; GENOMIC DNA; GROWTH DIFFERENTIATION FACTOR 5; NOGGIN; SMAD PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANIMAL TISSUE; ARTICLE; BONE DEVELOPMENT; BRACHYDACTYLY; CASE REPORT; CHICKEN; CHILD; CHONDROGENESIS; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FUNCTIONAL GENOMICS; GENE ACTIVATION; GENE IDENTIFICATION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HAND RADIOGRAPHY; HUMAN; MALE; MISSENSE MUTATION; MUTANT; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE GENETICS; SIGNAL TRANSDUCTION;

ADULT; BONE MORPHOGENETIC PROTEIN RECEPTORS, TYPE I; FEMALE; FINGERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MUTATION; PHENOTYPE;

EID: 33751317476     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201708     Document Type: Article

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