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Akademický článek

Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Autor: Justin L. Kandler, Evgenia Sklirou, Audrey Woerner, Leslie Walsh, Eleina Cox, Yuan Xue

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Abstract Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS), or “visceral myopathy,” is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. Five genes are linked to MMIHS:

Externí odkaz: https://doaj.org/article/33e704e0750e4d2cb1eeef7e76f45987

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Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing

Autor: Zhuo Luan Xu, Samuel P. Strom, Kelly Usrey, Eleina Cox, Alexis Disilvestro, Kermit S Zhang

Publikováno v: American Journal of Medical Genetics Part A. 182:2124-2128

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique crani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7b5f152ccae9da0410fdbffcee90bc4b
https://doi.org/10.1002/ajmg.a.61725

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Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review

Autor: Merlin G. Butler, Waheeda A. Hossain, Jacob Steinle, Harry Gao, Eleina Cox, Yuxin Niu, May Quach, Olivia J. Veatch

Publikováno v: International Journal of Molecular Sciences. 23:9090

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and the second most common cause after Down syndrome. FXS is an X-linked disorder due to a full mutation of the CGG triplet repeat of the FMR1 gene which codes f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5fbd8b0982254a8c50b88a806614a243
https://doi.org/10.3390/ijms23169090

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Compound heterozygous loss of function variants in MYL9 in a child with megacystis–microcolon–intestinal hypoperistalsis syndrome

Autor: Eleina Cox, Justin L Kandler, Audrey Woerner, Leslie Walsh, Evgenia Sklirou, Yuan Xue

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)

Megacystis–microcolon–intestinal hypoperistalsis syndrome (MMIHS), or “visceral myopathy,” is a severe early onset disorder characterized by impaired muscle contractility in the bladder and intestines. Five genes are linked to MMIHS: primaril

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dfaa3cc65a1edad45654822e52cb844
https://doi.org/10.1002/mgg3.1516

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