New clinical features in an adult patient with <scp>Skraban‐Deardorff</scp> syndrome-Reference-Cited by-同舟云学术

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New clinical features in an adult patient with Skraban‐Deardorff syndrome

Published:2022-10-21 Issue:1 Volume:191 Page:306-309
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Innella Giovanni¹²^ORCID,Scarano Emanuela³,Palumbo Pietro⁴,Carella Massimo⁴^ORCID,Severi Giulia¹^ORCID

Affiliation:

1. U.O.C. Genetica Medica IRCCS Azienda Ospedaliero‐Universitaria di Bologna Bologna Italy

2. Dipartimento di Scienze Mediche e Chirurgiche Università di Bologna Bologna Italy

3. S.S. U.O. Malattie Rare Congenito‐Malformative IRCCS Azienda Ospedaliero‐Universitaria di Bologna Bologna Italy

4. U.O.C. Genetica Medica Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Foggia Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63012

Reference9 articles.

1. Skraban‐Deardorff syndrome: Six new cases of WDR 26 ‐related disease and expansion of the clinical phenotype

2. Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability

3. Expanding the clinical phenotype of the ultra‐rare Skraban‐Deardorff syndrome: Two novel individuals with WDR26 loss‐of‐function variants and a literature review

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. A further case of Skraban-Deardorff syndrome and review of the literature

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