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SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis

✍ Scribed by de Jesus, J.; Imane, Z.; Senée, V.; Romero, S.; Guillausseau, P.-J.; Balafrej, A.; Julier, C.

Book ID
125460394
Publisher
Masson Editeur
Year
2013
Tongue
French
Weight
822 KB
Volume
39
Category
Article
ISSN
1262-3636

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✍ A. A. R. Starke; I. Valverde; G. F. Bottazzo; M. Tsotsalas; H. Zimmermann 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 415 KB

The case of a female patient with fasting hypoglycaemia before the development of Type 1 (insulin-dependent) diabetes mellitus is reported. She presented with primary hypothyroidism, partial hypopituitarism, adrenal insufficiency and glucagon deficiency. Thyroid microsomal and gastric parietal cell