Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions-Reference-Cited by-同舟云学术

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Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions

Published:1991-09-01 Issue:3 Volume:40 Page:260-263
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Nishimura Shin-Ichiro,Masuda Hiroyuki,Matsumoto Takahiko,Sakura Nobuo,Matsumoto Tomoaki,Ueda Kazuhiro

Publisher

Wiley

Subject

Genetics (clinical)

Reference24 articles.

1. Chondrodysplasia punctata with X;Y translocation

2. Abstracts of workshop presentations

3. PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs

4. Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis.

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1. Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism;Psychiatric Genetics;2013-10

2. Chondrodysplasias;Emery and Rimoin's Principles and Practice of Medical Genetics;2013

3. Disorders of keratinization;McKee's Pathology of the Skin;2012

4. Chondrodysplasia punctata: a clinical diagnostic and radiological review;Clinical Dysmorphology;2008-10

5. Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes;European Journal of Medical Genetics;2008-01

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