Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India-Reference-Cited by-同舟云学术

Expanding the phenotypic and genotypic spectrum of Wiedemann–Steiner syndrome: First patient from India

Published:2020-03-03 Issue:5 Volume:182 Page:953-956
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Arora Veronica¹^ORCID,Puri Ratna D.¹^ORCID,Bijarnia‐Mahay Sunita¹,Verma Ishwar C.¹^ORCID

Affiliation:

1. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital New Delhi India

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61534

Reference6 articles.

1. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

2. Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants

3. The progression of Wiedemann–Steiner syndrome in adulthood and two novel variants in the KMT2A gene;Feldman H. R.;American Journal of Medical Genetics Part A,2018

4. Neuronal Kmt2a/Mll1 Histone Methyltransferase Is Essential for Prefrontal Synaptic Plasticity and Working Memory

5. Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

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