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Indian Journal of Pediatrics

Volumn 77, Issue 2, 2010, Pages 208-209

Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies

(3) Chiu, Chia Hua a Thakuria, Joseph a Agrawal, Pankaj B a

a BOSTON CHILDREN S HOSPITAL (United States)

Author keywords

CHARGE syndrome; CHD7; FBN1; Marfan syndrome

Indexed keywords

FIBRILLIN 1;

ARTICLE; BICUSPID AORTIC VALVE; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; CRANIAL NERVE PARALYSIS; ESOPHAGUS ATRESIA; EXTERNAL EAR MALFORMATION; FACIAL NERVE PARALYSIS; GASTROESOPHAGEAL REFLUX; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HIATUS HERNIA; HOSPITALIZATION; HUMAN; HYDRAMNIOS; INFANT; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XY; MALE; MARFAN SYNDROME; MICROPENIS; PATENT DUCTUS ARTERIOSUS; PREGNANCY COMPLICATION; SYNDROME CHARGE; TRACHEOESOPHAGEAL FISTULA;

ABNORMALITIES, MULTIPLE; CENTRAL NERVOUS SYSTEM DISEASES; CHOANAL ATRESIA; COLOBOMA; DNA HELICASES; DNA-BINDING PROTEINS; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MOUTH DISEASES; POINT MUTATION; SPINAL DISEASES; SYNDROME; VESTIBULAR DISEASES;

EID: 77949264210 PISSN: 00195456 EISSN: None Source Type: Journal
DOI: 10.1007/s12098-009-0232-9 Document Type: Article

Times cited : (3)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.