STAR syndrome plus: The first description of a female patient with the lethal form-Reference-Cited by-同舟云学术

STAR syndrome plus: The first description of a female patient with the lethal form

Published:2017-10-31 Issue:12 Volume:173 Page:3226-3230
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Bedeschi Maria F.¹^ORCID,Giangiobbe Sara¹,Paganini Leda²,Tabano Silvia²,Silipigni Rosamaria³,Colombo Lorenzo⁴,Crippa Beatrice L.⁴,Lalatta Faustina¹,Guerneri Silvana³,Miozzo Monica²

Affiliation:

1. Clinical Genetics Unit; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

2. Department of Pathophysiology and Transplantation; Università degli Studi di Milano and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

3. Laboratory of Medical Genetics; Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

4. Neonatal Intensive Care Unit; Department of Clinical Science and Community Health; Università degli Studi di Milano and Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico; Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;American Journal of Human Genetics,1992

2. X-linked congenital ataxia: A clinical and genetic study;Bertini;American Journal of Medical Genetics,2000

3. Multigenerational pedigree with STAR syndrome: A novel FAM58A variant and expansion of the phenotype;Boczek;American Journal of Medical Genetics Part A,2017

4. Detection of clinically relevant exonic copy-number changes by array CGH;Boone;Human Mutation,2010

5. Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus;Cacciagli;American Journal of Human Genetics,2013

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. STAR Syndrome;Genetic Syndromes;2024

2. The identification of a novel CCNQ gene tail extension variant contributing to syndactyly, telecanthus and anogenital and renal malformations syndrome;Clinical Genetics;2022-11-13

3. Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome;American Journal of Ophthalmology Case Reports;2022-03

4. Where the genome meets the connectome: Understanding how genes shape human brain connectivity;NeuroImage;2021-12

5. Cilia kinases in skeletal development and homeostasis;Developmental Dynamics;2021-10-18