共 45 条
[1]
Jongmans MC(2006)CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene J Med Genet 43 306-314
[2]
Admiraal RJ(1979)Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome J Pediatr Ophthalmol Strabismus 16 122-128
[3]
van der Donk KP(1979)Choanal atresia and associated multiple anomalies J Pediatr 95 395-398
[4]
Hittner HM(2010)Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome Am J Med Genet A 152A 674-686
[5]
Hirsch NJ(2014)Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients Hum Mutat 35 478-485
[6]
Kreh GM(2013)"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype Am J Med Genet A 161A 108-113
[7]
Rudolph AJ(2010)Target-enrichment strategies for next-generation sequencing Nat Methods 7 111-118
[8]
Hall BD(2016)A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome Hum Genome Var 3 209-213
[9]
Zentner GE(2013)8q12.1q12.3 de novo microdeletion involving the CHD7 gene in a patient without the major features of CHARGE syndrome: case report and critical review of the literature Gene 513 45-51
[10]
Layman WS(2014)Endocrinological characteristics of 25 Japanese patients with CHARGE syndrome Clin Pediatr Endocrinol 23 776-781