Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region-Reference-Cited by-同舟云学术

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Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region

Published:1996-01-01 Issue:1 Volume:5 Page:139-143
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:Human Molecular Genetics

Author:

Hu L.-J.,Laporte J.,Kress W.,Kioschis P.,Siebenhaar R.,Poustka A.,Fardeau M.,Metzenberg A.,Janssen E. A.,Thomas N.,Mandel J. L.,Dahl N.

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/5/1/139/1560198/5-1-139.pdf

Reference27 articles.

1. Report on the 20th ENMC Sponsored International Workshop: Myotubular/Centronuclear Myopathy

2. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci.

3. X-linked myotubular myopathy: a linkage study

4. X linked neonatal myotubular myopathy: one recombination detected with four polymorphic DNA markers from Xq28.

5. A linkage study of a large pedigree with X linked centronuclear myopathy.

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1. Digenic Origin of Difference of Sex Development in a Patient Harbouring DHX37 and MAMLD1 Variants;Case Reports in Pediatrics;2024-01

2. Myotubular Myopathy with Abnormal Genital Development;Genetic Syndromes;2024

3. Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele;European Journal of Medical Genetics;2021-04

4. Disorders of Sex Development in Individuals Harbouring MAMLD1 Variants: WES and Interactome Evidence of Oligogenic Inheritance;Frontiers in Endocrinology;2020-12-23

5. Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature;Orphanet Journal of Rare Diseases;2020-07-20

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