Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome-Reference-Cited by-同舟云学术

Mother and daughter with a terminal Xp deletion: Implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome

Published:2007-11 Issue:6 Volume:50 Page:421-431
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wimplinger Isabella,Rauch Anita,Orth Ulrike,Schwarzer Ulrich,Trautmann Udo,Kutsche Kerstin

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference31 articles.

1. Two 46,XX,t(X;Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3;Al-Gazali;J. Med. Genet.,1990

2. Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2;Allanson;J. Med. Genet.,1991

3. Twin brothers with MIDAS syndrome and XX karyotype;Anguiano;Am. J. Med. Genet A,2003

4. Genetic control of X inactivation and processes leading to X-inactivation skewing;Belmont;Am. J. Hum. Genet.,1996

5. Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?;Bird;Am. J. Med. Genet.,1994

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