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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterised by the presence of myotonia with a mask-like face, skeletal dysplasia, and growth retardation. Two types have been defined by the age of manifestation of the symptoms. Linkage of Schwartz-Jampel syndrome to human chr...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | English |
| Publicado em: |
1997
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051035/ https://ncbi.nlm.nih.gov/pubmed/9279765 |
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