Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

European Journal of Human Genetics

Volumn 20, Issue 8, 2012, Pages 909-

  Albuisson, Juliette ^a,b   Schmitt, Sébastien ^a   Baron, Sabine ^c   Bézieau, Stéphane ^a,b   Benito Sanz, Sara ^d,e   Heath, Karen E ^d,e  

^a HÔTEL DIEU   (France)

^b UNIVERSITÉ DE NANTES   (France)

^c NANTES UNIVERSITY HOSPITAL   (France)

^d HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE; HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN;

ARTICLE; BONE DYSPLASIA; CLINICAL FEATURE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC TEST; DYSCHONDROSTEOSIS; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENE SEQUENCE; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HAPLOINSUFFICIENCY; HOMEOBOX; HUMAN; LANGER MESOMELIC DYSPLASIA; LIFESTYLE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POINT MUTATION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHORT STATURE; CHONDRODYSPLASIA; GENETICS; GENOTYPE; GROWTH DISORDER; METHODOLOGY; MUTATION; PROGNOSIS;

GENETIC TESTING; GENOTYPE; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; OSTEOCHONDRODYSPLASIAS; PROGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 84864136574     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.64     Document Type: Article

References (11)

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