A novel homozygous nonsense <scp> <i>NDNF</i> </scp> variant in Kallmann syndrome-Reference-Cited by-同舟云学术

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A novel homozygous nonsense NDNF variant in Kallmann syndrome

Published:2022-12 Issue:3 Volume:191 Page:831-834
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Kotan Leman Damla¹^ORCID,Yildiz Melek²,Turan Ihsan¹,Celiloglu Can¹,Yuksel Bilgin¹,Topaloglu Ali Kemal³

Affiliation:

1. Division of Pediatric Endocrinology, Faculty of Medicine Cukurova University Adana Turkey

2. Division of Pediatric Endocrinology, Faculty of Medicine Istanbul University Istanbul Turkey

3. Division of Pediatric Endocrinology, Harvard Medical School Massachusetts General Hospital for Children Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63066

Reference18 articles.

1. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data

2. Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome

3. Identification of deleterious mutations within three human genomes

4. Iranome: A catalog of genomic variations in the Iranian population

5. The genetic structure of the Turkish population reveals high levels of variation and admixture

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