Familial short stature due to a 5q22.1-q23.2 duplication refines the 5q duplication spectrum

European Journal of Medical Genetics

Volumn 54, Issue 5, 2011, Pages

  Zahnleiter, Diana ^a   Trautmann, Udo ^a   Ekici, Arif B ^a   Goehring, Ina ^a   Reis, André ^a   Dörr, Helmuth Günther ^a   Rauch, Anita ^b   Thiel, Christian T ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Congenital heart defect; Partial trisomy 5q; Retardation; Short stature

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE SEVERITY; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; GESTATIONAL AGE; GROWTH RETARDATION; HUMAN; KARYOTYPING; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; PARTIAL TRISOMY; PENETRANCE; PERINATAL PERIOD; PHENOTYPE; SHORT STATURE;

ADOLESCENT; CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GROWTH DISORDERS; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; POLYMORPHISM, SINGLE NUCLEOTIDE; TRISOMY;

EID: 79961128018     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.007     Document Type: Article

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