Sequence variants in DLX5, HOXD13 and 445 kb‐microduplication surrounding BTRC cause split‐hand/foot malformation in three different families

Author:

Abdullah 12,Hussain Shabir1,Ji Weizhen2,Khan Hammal3,Mis Emily K.2,Mushtaq Rabiha1,Chodhary Mirub1,Raza Muhammad Hassan1,Jan Abid4,Ullah Imran1,Khokha Mustafa K.2,Lakhani Saquib A.2,Ahmad Wasim1ORCID

Affiliation:

1. Department of Biochemistry, Faculty of Biological Sciences Quaid‐i‐Azam University Islamabad Islamabad Pakistan

2. Pediatric Genomics Discovery Program, Department of Pediatrics Yale University School of Medicine New Haven Connecticut USA

3. Department of Biosciences COMSATS University Islamabad Islamabad Pakistan

4. Department of Biotechnology and Genetic Engineering Kohat University of Science &Technology (KUST) Kohat Pakistan

Funder

Higher Education Commission, Pakistan

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. Nonsyndromic Split-Hand/Foot Malformation: Recent Classification

2. Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders

3. Greig cephalopolysyndactyly syndrome: phenotypic variability associated with variants in two different domains of GLI3;Khan H;Klin Padiatr,2020

4. A New Era in Noninvasive Prenatal Testing

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