Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period

Prenatal Diagnosis

Volumn 24, Issue 1, 2004, Pages 45-49

  Kataoka, Soromon ^a   Sawai, Hideaki ^b   Yamada, Hideto ^a   Kanazawa, Nozomi ^b   Koyama, Koji ^b   Nishimura, Gen ^c   Morikawa, Mamoru ^a   Sakuragi, Noriaki ^a   Minakami, Hisanori ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b HYOGO COLLEGE OF MEDICINE   (Japan)

^c Tokyo Metropol Kiyose Children's H ^*  (Japan)

Author keywords

FGFR3 gene; Hypochondroplasia; Skeletal dysplasia

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BIPARIETAL DISTANCE; BONE RADIOGRAPHY; CASE REPORT; FETUS ECHOGRAPHY; FGFR3 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOCHONDROPLASIA; LIMB MALFORMATION; MALE; NEWBORN; NEWBORN PERIOD; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIODIAGNOSIS; SHORT LIMB; SHORT STATURE; SPORADIC HYPOCHONDROPLASIA;

ADULT; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC SCREENING; GESTATIONAL AGE; HUMANS; INFANT, NEWBORN; MALE; OSTEOCHONDRODYSPLASIAS; PREGNANCY; PREGNANCY TRIMESTER, THIRD; PRENATAL DIAGNOSIS; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 1042290403     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.746     Document Type: Article

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