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首页> European journal of medical genetics> A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction.

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作者： Asmat,Ullah ^[1] ; Raja Hussain,Ali ^[2] ; Ayesha Isani,Majeed ^[3] ; Khurram,Liaqat ^[4] ; Pashmina Wiqar,Shah ^[1] ; Bushra,Khan ^[5] ; Muhammad,Bilal ^[1] ; Muhammad,Umair ^[1] ; Wasim,Ahmad ^[6]

作者单位： Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. ^[1] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, 02115, USA. ^[2] Radiology Department, Pakistan Institute of Medical Sciences, Islamabad, Pakistan. ^[3] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. ^[4] Department of Biochemistry, Abdul Wali Khan University Mardan, Khyber Pakhtunkhwa, Pakistan. ^[5] Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan. Electronic address: wahmad@qau.edu.pk. ^[6]

关键词 BHLHA9 Indel variant Mesoaxial synostotic syndactyly Phalangeal reduction

主题词成年人(Adult);碱性螺旋-环-螺旋转录因子类(Basic Helix-Loop-Helix Transcription Factors);儿童(Child);女(雌)性(Female);指(Fingers);移码突变(Frameshift Mutation);人类(Humans);INDEL突变(INDEL Mutation);男(雄)性(Male);系谱(Pedigree);多指(趾)畸形(Polydactyly);并指(趾)(Syndactyly);趾(Toes)

DOI 10.1016/j.ejmg.2018.08.005

PMID 30107244

发布时间 2019-04-01

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European journal of medical genetics

European journal of medical genetics

2019年62卷4期

278-281页

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European journal of medical genetics

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European journal of medical genetics

2019年62卷4期

278-281页

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