A novelCHST3allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred

Author:

Waryah A. M.1,Shahzad M.2,Shaikh H.1,Sheikh S. A.1,Channa N. A.3,Hufnagel R. B.45,Makhdoom A.6,Riazuddin S.2,Ahmed Z. M.2

Affiliation:

1. Molecular Biology & Genetics Department, Medical Research Center; Liaquat University of Medical & Health Sciences; Jamshoro Pakistan

2. Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine; University of Maryland; Baltimore MD USA

3. Institute of Biochemistry; University of Sindh; Jamshoro Pakistan

4. Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine; University of Cincinnati; Cincinnati OH USA

5. Unit on Pediatric, Developmental & Genetic Ophthalmology, Ophthalmic Genetics and Visual Function Branch; National Eye Institute, National Institutes of Health; Bethesda MD USA

6. Department of Orthopedic Surgery; Liaquat University of Medical & Health Sciences; Jamshoro Pakistan

Funder

National Institute on Deafness and Other Communication Disorders

National Institutes of Health

LUMHS Intramural Funds

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference19 articles.

1. The skeletal dysplasias;Krakow;Genet Med,2010

2. Skeletal dysplasias;Krakow;Clin Perinatol,2015

3. Nosology and classification of genetic skeletal disorders: 2010 revision;Warman;Am J Med Genet A,2011

4. A new lethal neonatal short limb dwarfism;al Gazali;Clin Dysmorphol,1996

5. Anti-sclerostin antibodies: utility in treatment of osteoporosis;Clarke;Maturitas,2014

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