The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case. [electronic resource]
Producer: 19991015Description: 310-4 p. digitalISSN:- 0301-0171
- Adult
- Chromosome Banding
- Cryptorchidism -- diagnosis
- Female
- Genetic Carrier Screening
- Humans
- Hypospadias -- diagnosis
- In Situ Hybridization, Fluorescence
- Infant, Newborn
- Loss of Heterozygosity -- genetics
- Male
- Muscle Hypotonia -- diagnosis
- Pedigree
- Protein Tyrosine Phosphatases -- deficiency
- Protein Tyrosine Phosphatases, Non-Receptor
- Sequence Deletion -- genetics
- Syndrome
- X Chromosome -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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