Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants-Reference-Cited by-同舟云学术

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants

Published:2021-12-31 Issue:1 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Kalfon Limor¹,Baydany Meirav¹²,Samra Nadra¹²,Heno Nawaf³,Segal Zvi⁴,Eran Ayelet⁵,Yulevich Alon⁶,Fellig Yakov⁷,Mandel Hanna¹^ORCID,Falik‐Zaccai Tzipora C.¹²^ORCID

Affiliation:

1. Institute of Human Genetics Galilee Medical Center Nahariya Israel

2. The Azrieli Faculty of Medicine Bar Ilan Safed Israel

3. Department of Pediatrics Galilee Medical Center Nahariya Israel

4. Department of Ophthalmology Galilee Medical Center Nahariya Israel

5. Neuroradiology Rambam Health Care Campus, and Technion Faculty of Medicine Haifa Israel

6. Department of Pediatric Surgery Galilee Medical Center Nahariya Israel

7. Department of Pathology Hadassah Hebrew University Medical Center Jerusalem Israel

Funder

Teva Pharmaceutical Industries

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1849

Reference15 articles.

1. Congenital Muscular Dystrophies: A Brief Review

2. ER-associated degradation in health and disease – from substrate to organism

3. Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach

4. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

5. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

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