Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability

Archives of Medical Research

Volumn 43, Issue 4, 2012, Pages 312-316

  Iqbal, Zafar ^a   Neveling, Kornelia ^a   Razzaq, Attia ^b   Shahzad, Mohsin ^b   Zahoor, Muhammad Yasir ^b   Qasim, Muhammad ^b   Gilissen, Christian ^a   Wieskamp, Nienke ^a   Kwint, Michael P ^a   Gijsen, Sabine ^a   de Brouwer, Arjan P M ^a,e   Veltman, Joris A ^a   Riazuddin, Sheikh ^b,c   van Bokhoven, Hans ^a,d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF THE PUNJAB   (Pakistan)

^c ALLAMA IQBAL MEDICAL COLLEGE   (Pakistan)

^d RADBOUD UNIVERSITY   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Congenital hypothyroidism; Homozygosity mapping; Intellectual disability; Next generation sequencing; Submicroscopic; TPO

Indexed keywords

THYROID PEROXIDASE;

ADULT; ARTICLE; CHROMOSOME 2P; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE MAPPING; GENETIC DISORDER; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; PAKISTAN; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; EXONS; FEMALE; HOMOZYGOTE; HUMANS; HYPOTHYROIDISM; INTELLECTUAL DISABILITY; IODIDE PEROXIDASE; MALE; PAKISTAN; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 84864100610     PISSN: 01884409     EISSN: 18735487     Source Type: Journal    
DOI: 10.1016/j.arcmed.2012.01.011     Document Type: Article

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