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New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia

✍ Scribed by Gurrieri, F. ;Sammito, V. ;Bellussi, A. ;Neri, G.


Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
615 KB
Volume
44
Category
Article
ISSN
0148-7299

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New autosomal-recessive syndrome of lebe
✍ Ehara, Hiroaki; Nakano, Chizuko; Ohno, Kousaku; Goto, Yu-Ichi; Takeshita, Kenzo πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 36 KB πŸ‘ 2 views

We report on a new autosomal-recessive syndrome in 4 Japanese children in 2 families. The key manifestations are Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, metabolic acidosis, and autosomal-recessive inheritance. There were no co