Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene-Reference-Cited by-同舟云学术

Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene

Published:2018-04-21 Issue:5 Volume:176 Page:1200-1206
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Patil Siddaramappa Jagdish¹^ORCID,Das Bhowmik Aneek²^ORCID,Bhat Venkatraman³,Satidevi Vineeth Venugopal²,Vasudevamurthy Rashmi⁴,Dalal Ashwin²^ORCID

Affiliation:

1. Department of Medical GeneticsMazumdar Shaw Medical Center, Narayana Health CityBangalore India

2. Diagnostics DivisionCentre for DNA Fingerprinting and DiagnosticsHyderabad India

3. Department of RadiologyMazumdar Shaw Medical Center, Narayana Health CityBangalore India

4. Department of PediatricsMazumdar Shaw Medical Center, Narayana Health CityBangalore India

Funder

Science and Engineering Research Board

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38659

Reference20 articles.

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2. Pax genes: regulators of lineage specification and progenitor cell maintenance

3. The genetics of auricular development and malformation: New findings in model systems driving future directions for microtia research

4. Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data

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