A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins-Reference-Cited by-同舟云学术

A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins

Published:2018-12-26 Issue:3 Volume:95 Page:368-374
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Paganini Leda¹²^ORCID,Hadi Loubna A.³,Chetta Massimiliano⁴,Rovina Davide⁵,Fontana Laura²,Colapietro Patrizia²,Bonaparte Eleonora¹,Pezzani Lidia⁶,Marchisio Paola⁶,Tabano Silvia M.¹²^ORCID,Costanza Jole¹,Sirchia Silvia M.⁵,Riboni Laura³,Milani Donatella⁶,Miozzo Monica¹²^ORCID

Affiliation:

1. Division of pathology, Research Laboratory Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

2. Medical Genetics, Department of Pathophysiology and TransplantationUniversità degli Studi di Milano Milan Italy

3. Department of Medical Biotechnology and Translational Medicine, LITA‐SegrateUniversità degli Studi di Milano Milan Italy

4. U.O.C. Genetica Medica e di Laboratorio, A.O.R.N. Cardarelli Naples Italy

5. Medical Genetics, Department of Health SciencesUniversità degli Studi di Milano Milan Italy

6. Pediatric Highly Intensive Care UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13485

Reference25 articles.

1. Diagnostic and Statistical Manual of Mental Disorders

2. Genetic causes of intellectual disability in a birth cohort: A population‐based study

3. Advances in understanding – genetic basis of intellectual disability

4. The genetic basis of non-syndromic intellectual disability: a review

5. A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex

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