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Journal of Craniofacial Surgery

Volumn 24, Issue 5, 2013, Pages 1829-1832

Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome

(3) Ettinger, Nicholas a Williams, Misti a Phillips III, John A a

a VANDERBILT UNIVERSITY MEDICAL CENTER (United States)

Author keywords

Exophthalmos; Genotype; Pfeiffer syndrome; Phenotype; Syndactyly

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; FATALITY; FEMALE; GENETIC SCREENING; GENETICS; GENOTYPE; HUMAN; MUTATION; NEWBORN; PHENOTYPE;

ACROCEPHALOSYNDACTYLIA; DIAGNOSIS, DIFFERENTIAL; FATAL OUTCOME; FEMALE; GENETIC TESTING; GENOTYPE; HUMANS; INFANT, NEWBORN; MUTATION; PHENOTYPE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84885076717 PISSN: 10492275 EISSN: 15363732 Source Type: Journal
DOI: 10.1097/SCS.0b013e3182997df5 Document Type: Article

Times cited : (9)

References (7)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.