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New autosomal recessive syndrome with short stature and facio–auriculo–thoracic malformations

✍ Scribed by André Mégarbané; Linda Daou; Hala Mégarbané; Hélène Cave; Eliane Chouery; Alain Verloes


Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
175 KB
Volume
128A
Category
Article
ISSN
1552-4825

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New autosomal-recessive syndrome of lebe
✍ Ehara, Hiroaki; Nakano, Chizuko; Ohno, Kousaku; Goto, Yu-Ichi; Takeshita, Kenzo 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 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