TY  - GEN
AU  - Bartsch,O
AU  - Kress,W
AU  - Wagner,A
AU  - Seemanova,E
TI  - The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28:report of the first familial case
SN  - 0301-0171
PY  - 1999///1015
KW  - Adult
KW  - Chromosome Banding
KW  - Cryptorchidism
KW  - diagnosis
KW  - Female
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Hypospadias
KW  - In Situ Hybridization, Fluorescence
KW  - Infant, Newborn
KW  - Loss of Heterozygosity
KW  - genetics
KW  - Male
KW  - Muscle Hypotonia
KW  - Pedigree
KW  - Protein Tyrosine Phosphatases
KW  - deficiency
KW  - Protein Tyrosine Phosphatases, Non-Receptor
KW  - Sequence Deletion
KW  - Syndrome
KW  - X Chromosome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1159/000015284
ER  -