Smith-Kingsmore syndrome: A third family with theMTORmutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism-Reference-Cited by-同舟云学术

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Smith-Kingsmore syndrome: A third family with theMTORmutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism

Published:2016-10-18 Issue:1 Volume:173 Page:264-267
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Moosa Shahida¹,Böhrer-Rabel Helena²,Altmüller Janine³⁴,Beleggia Filippo⁵,Nürnberg Peter³,Li Yun¹,Yigit Gökhan¹,Wollnik Bernd¹

Affiliation:

1. Institute of Human Genetics; University Medical Center Göttingen; Göttingen Germany

2. Genetikum; Neu-Ulm Germany

3. Cologne Center for Genomics; University of Cologne; Cologne Germany

4. Institute of Human Genetics; University of Cologne; Cologne Germany

5. Institute of Human Genetics; University Hospital Düsseldorf; Düsseldorf Germany

Funder

German Federal Ministry of Education and Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37999/fullpdf

Reference11 articles.

1. Polyps in Children;Adolph;Clin Colon Rectal Surg,2008

2. A germline MTOR mutation in aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces;Baynam;Am J Med Genet Part A,2015

3. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders;Campbell;Am J Hum Genet,2014

4. COSMIC: Exploring the world's knowledge of somatic mutations in human cancer;Forbes;Nucl Acids Res,2015

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1. Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior;Human Genetics and Genomics Advances;2024-10

2. Midline non-ictal rhythmic waveforms as possible electroencephalographic biomarkers of Smith-Klingsmore syndrome in children;Clinical Neurophysiology Practice;2024

3. Smith-Kingsmore Syndrome (SKS);Genetic Syndromes;2024

4. Smith-Kingsmore syndrome with nystagmus as the initial symptom;Acta Epileptologica;2023-10-13

5. Pigmentary mosaicism;Clinics in Dermatology;2022-07

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