Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes-Reference-Cited by-同舟云学术

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes

Published:2017-04-18 Issue:6 Volume:5 Page:833-840
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Mullegama Sureni V.¹²,Jensik Phillip³,Li Chen⁴,Dorrani Naghmeh¹²⁵⁶,Kantarci Sibel¹²,Blumberg Bruce⁷,Grody Wayne W.¹²⁵⁶,Strom Samuel P.¹²^ORCID,

Affiliation:

1. UCLA; Department of Pathology and Laboratory Medicine; David Geffen School of Medicine; University of California, Los Angeles; Los Angeles California

2. UCLA Clinical Genomics Center; David Geffen School of Medicine; University of California, Los Angeles; Los Angeles California

3. Department of Physiology; Southern Illinois University School of Medicine; Carbondale Illinois

4. Department of Cellular and Genetic Medicine; School of Basic Medical Sciences; Fudan University; Shanghai China

5. Department of Human Genetics; David Geffen School of Medicine; University of California, Los Angeles; Los Angeles California

6. Department of Pediatrics; David Geffen School of Medicine; University of California, Los Angeles; Los Angeles California

7. Kaiser Permanente; Oakland California

Funder

National Institutes of Health

National Natural Science Foundation of China

Shanghai Municipal Population and Family Planning Commission

Publisher

Wiley

Subject

General Medicine

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5. Identification of a nuclear export signal and protein interaction domains in deformed epidermal autoregulatory factor-1 (DEAF-1);Jensik;J. Biol. Chem.,2004

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3. Report of a de novo c.2605C > T (p.Pro869Ser) change in the MED13L gene and review of the literature for MED13L-related intellectual disability;Italian Journal of Pediatrics;2020-07-09

4. Is MED13L-related intellectual disability a recognizable syndrome?;European Journal of Medical Genetics;2019-02