Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

European Journal of Medical Genetics

Volumn 55, Issue 10, 2012, Pages 557-560

  Kroeldrup, L ^a   Kjaergaard, S ^b   Kirchhoff, M ^b   Kock, K ^a   Brasch Andersen, C ^a   Kibaek, M ^a   Ousager, L B ^a  

^a ODENSE UNIVERSITY HOSPITAL   (Denmark)

^b Rigshospitalet   (Denmark)

Author keywords

7q36.3; Array CGH; Duplication; Muscular hypertrophy; SHH; Sonic Hedgehog

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ABORTION; ADULT; ANTHROPOMETRY; ARTICLE; AUTOPSY; BIRTH WEIGHT; CASE REPORT; CESAREAN SECTION; CHROMOSOME 7Q; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DELIVERY; DEVELOPMENTAL DISORDER; DEVELOPMENTAL, AGE AND GROWTH PARAMETERS; FEMALE; FETUS ECHOGRAPHY; FLUORESCENCE IN SITU HYBRIDIZATION; FROZEN SECTION; GENE; GENE OVEREXPRESSION; GENETIC COUNSELING; HEAD CIRCUMFERENCE; HEPATOMEGALY; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INGUINAL HERNIA; LIVE BIRTH; MALE; MICROPENIS; MUSCLE HYPERTROPHY; NEWBORN; PREGNANCY COMPLICATION; PREGNANCY TERMINATION; PSYCHOMOTOR DEVELOPMENT; RBM33 GENE; REAL TIME POLYMERASE CHAIN REACTION; SHH GENE; STORAGE DISEASE;

ABORTED FETUS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HEDGEHOG PROTEINS; HEPATOMEGALY; HUMANS; INFANT, NEWBORN; MALE; MUSCLES; MUSCULAR DISEASES; POLYHYDRAMNIOS; PREGNANCY; SIBLINGS; ULTRASONOGRAPHY, PRENATAL;

ANIMALIA; ERINACEIDAE;

EID: 84866423709     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.04.009     Document Type: Article

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