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American Journal of Medical Genetics, Part A

Volumn 140, Issue 23, 2006, Pages 2584-2586

PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI

(3) Ribeiro, Lucilene Arilho a Murray, Jeffrey C b Richieri Costa, Antonio a

a UNIVERSITY OF SÃO PAULO (Brazil)

b UNIVERSITY OF IOWA (United States)

Author keywords

Cleft lip palate; Delayed neuropsychological development; Extracellular loops; Intracellular loops; Missense mutations

Indexed keywords

BRAZIL; CLEFT LIP NOSE; CLEFT LIP PALATE; CONFERENCE PAPER; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOLOPROSENCEPHALY; HUMAN; HYPERTELORISM; INCISOR; MACROCEPHALY; MAJOR CLINICAL STUDY; MICROPHTHALMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; NOSE SEPTUM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PTCH GENE;

ABNORMALITIES, MULTIPLE; BRAZIL; CLEFT LIP; HOLOPROSENCEPHALY; HUMANS; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; RECEPTORS, CELL SURFACE;

EID: 33845245375 PISSN: 15524825 EISSN: 15524833 Source Type: Journal
DOI: 10.1002/ajmg.a.31369 Document Type: Conference Paper

Times cited : (43)

References (6)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.