‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22
‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22
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Publisher
New Delhi: Springer India
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Language
English
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Publisher
New Delhi: Springer India
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Contents
The 16p12.2 chromosome band contains three large segmental duplications: BP1, BP2 and BP3, providing a substrate for recombination and recurrent chromosomal rearrangements. The ‘16p12.2 microdeletion’ is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical findings. We identified a heterozygous 16p12.2 microdeletion...
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Full title
‘Distal 16p12.2 microdeletion’ in a patient with autosomal recessive deafness-22
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TN_cdi_proquest_miscellaneous_2275246997
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2275246997
Other Identifiers
ISSN
0022-1333
E-ISSN
0973-7731
DOI
10.1007/s12041-019-1107-0
