Bartsch, O <br/><br/>
The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case.  [electronic resource] 

 -  Cytogenetics and cell genetics  1999 
 - 310-4 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0301-0171 
<br/><br/><label>Standard No.: </label>10.1159/000015284  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Chromosome Banding<br/>Cryptorchidism--diagnosis<br/>Female<br/>Genetic Carrier Screening<br/>Humans<br/>Hypospadias--diagnosis<br/>In Situ Hybridization, Fluorescence<br/>Infant, Newborn<br/>Loss of Heterozygosity--genetics<br/>Male<br/>Muscle Hypotonia--diagnosis<br/>Pedigree<br/>Protein Tyrosine Phosphatases--deficiency<br/>Protein Tyrosine Phosphatases, Non-Receptor<br/>Sequence Deletion--genetics<br/>Syndrome<br/>X Chromosome--genetics