JaypeeDigital | Update on Common Chromosomal and Metabolic Disorders Causing Disability

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Chapter-58 Update on Common Chromosomal and Metabolic Disorders Causing Disability

BOOK TITLE: Comprehensive Textbook on Disability

Author

1. Chawla Deepak

ISBN

9789354655517

DOI

10.5005/jp/books/18613_60

Edition

1/e

Publishing Year

2022

Pages

Author Affiliations

1. Sir Ganga Ram Hospital, New Delhi, India, Government Medical College and Hospital, Chandigarh, India, Government Medical College Hospital, Chandigarh, India, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India, Government Medical College and Hospital (GMCH), Chandigarh, India, Government Medical College and Hospital Chandigarh, India, Government Medical College, Chandigarh, India

Chapter keywords

Common chromosomal disorder, metabolic disorder, disability, chromosomal abnormality, Down syndrome, diagnosis, karyotype analysis, whole-genome sequencing, fluorescence in situ hybridization, congenital hypothyroidism, inborn errors of metabolism

Abstract

Abstract

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