Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome ( SOX5 )-Reference-Cited by-同舟云学术

Clinical spectrum and follow‐up in six individuals with Lamb–Shaffer syndrome ( SOX5 )

Published:2020-12-09 Issue:2 Volume:185 Page:608-613
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Innella Giovanni¹,Greco Donatella²,Carli Diana³^ORCID,Magini Pamela¹,Giorgio Elisa⁴,Galesi Ornella²,Ferrero Giovanni Battista⁴^ORCID,Romano Corrado²,Brusco Alfredo⁴⁵^ORCID,Graziano Claudio¹^ORCID

Affiliation:

1. Medical Genetics Unit, Policlinico di S. Orsola University of Bologna Bologna Italy

2. Oasi Research Institute – IRCCS Troina Italy

3. Department of Public Health and Pediatric Sciences University of Turin Turin Italy

4. Department of Medical Sciences University of Turin Turin Italy

5. Unit of Medical Genetics “Città della Salute e della Scienza” University Hospital Turin Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62001

Reference19 articles.

1. Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

2. SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations

3. Autism risk in offspring can be assessed through quantification of male sperm mosaicism

4. Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD

5. Identification and functional analysis ofSOX10missense mutations in different subtypes of waardenburg syndrome

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