Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?-Reference-Cited by-同舟云学术

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Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

Published:2022-01 Issue:1 Volume:65 Page:104382
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

van der Werf - ’t Lam A.S.,van Haeringen A.,Rinnen T.,Robles de Medina R.M.,Wilde A.A.M.^ORCID,Hennekam R.C.,Barge - Schaapveld D.Q.C.M.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference14 articles.

1. Bioelectric signalling via potassium channels: a mechanism for craniofacial dysmorphogenesis in KCNJ2-associated Andersen-Tawil Syndrome;Adams;J. Physiol.,2016

2. Debunking Occam's razor: diagnosing multiple genetic diseases in families by whole-exome sequencing;Balci;Clin. Genet.,2017

3. Kir2.1 is important for efficient BMP signaling in mammalian face development;Belus;Dev. Biol.,2018

4. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome;Donaldson;Neurology,2003

5. Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model?;Ferrari;Eur. J. Hum. Genet.,2020

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