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Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

✍ Scribed by Parvari, Ruti; Hershkovitz, Eli; Grossman, Nili; Gorodischer, Rafael; Loeys, Bart; Zecic, Alexandra; Mortier, Geert; Gregory, Simon; Sharony, Reuven; Kambouris, Marios


Book ID
109918120
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
758 KB
Volume
32
Category
Article
ISSN
1061-4036

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Sanjad-Sakati and autosomal recessive Ke
✍ Diaz, G.A.; Gelb, B.D.; Ali, F.; Sakati, N.; Sanjad, S.; Meyer, B.F.; Kambouris, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

T h e S a n j a d -S a k a t i s y n d r o m e ( S S S ; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation, seizures, and a characteristic physiognomy, was recently linked to chromosome area 1q42-q43. SSS resembles the autosomal re