Hormonal and genetical assessment of a Japanese girl with Weaver syndrome

Clinical Pediatric Endocrinology

Volumn 13, Issue 1, 2004, Pages 17-23

  Miyoshi, Yoko ^a   Taniike, Masako ^a   Mohri, Ikuko ^a   Mushiake, Sotaro ^a   Nakajima, Shigeo ^a   Matsumoto, Naomichi ^b,c   Ozono, Keiichi ^a,d  

^a OSAKA UNIVERSITY   (Japan)

^b NAGASAKI UNIVERSITY   (Japan)

^c YOKOHAMA CITY UNIVERSITY   (Japan)

^d OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Advanced bone age; NsD1 gene; Overgrowth; Sotos syndrome; Weaver syndrome

Indexed keywords

ANAMNESIS; ARTICLE; BODY HEIGHT; BODY WEIGHT; BREATHING DISORDER; CASE REPORT; CHROMOSOME ANALYSIS; CLEFT PALATE; CLINICAL EXAMINATION; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYSPHAGIA; ENDOCRINE SYSTEM EXAMINATION; FEMALE; FLEXION CONTRACTURE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC DISORDER; GESTATIONAL AGE; HEAD CIRCUMFERENCE; HORMONE DETERMINATION; HUMAN; LABORATORY TEST; MUSCLE HYPERTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; POINT MUTATION; PRESCHOOL CHILD; SEQUENCE ANALYSIS; WEAVER SYNDROME;

EID: 22544460488     PISSN: 09185739     EISSN: None     Source Type: Journal    
DOI: 10.1297/cpe.13.17     Document Type: Article

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