Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?-Reference-Cited by-同舟云学术

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Diverse clinical outcome of Hunter syndrome in patients with chromosomal aberration encompassing entire and partial IDS deletions: what is important for early diagnosis and counseling?

Published:2020-12-07 Issue:2 Volume:30 Page:76-82
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Jezela-Stanek Aleksandra,Pokora Paulina,Młynek Marlena,Smyk Marta,Ziemkiewicz Kamila,Różdżyńska-Świątkowska Agnieszka,Tylki-Szymańska Anna

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference11 articles.

1. Inversion of the IDS gene resulting from recombination with IDS-related sequences is a common cause of the Hunter syndrome.;Bondeson;Hum Mol Genet,1995

2. Presence of an IDS-related locus (IDS2) in Xq28 complicates the mutational analysis of Hunter syndrome.;Bondeson;Eur J Hum Genet,1995

3. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes.;Brusius-Facchin;Am J Med Genet A,2012

4. Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.;Burton;Eur J Pediatr,2012

5. Mucopolysaccharidosis type II: an update on mutation spectrum.;Froissart;Acta Paediatr,2007

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