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Aspartylglycosaminuria in an Italian family: Clinical and biochemical characteristics

✍ Scribed by J. Gehler; A. C. Sewell; Christa Becker; J. Spranger; J. Hartmann

Publisher
Springer
Year
1981
Tongue
English
Weight
298 KB
Volume
4
Category
Article
ISSN
0141-8955

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## Abstract Benign hereditary chorea is an autosomal dominant disorder characterized by early onset nonprogressive chorea, caused by mutations of the __thyroid transcription factor‐1 (TITF‐1)__ gene. Clinical heterogeneity has been reported and thyroid and respiratory abnormalities may be present.