𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Shwachman-Diamond syndrome: Clinical, radiological and sonographic aspects

✍ Scribed by T. Berrocal; M. J. Simón; I. Al-Assir; C. Prieto; I. Pastor; L. de Pablo; R. Lama

Publisher
Springer-Verlag
Year
1995
Tongue
English
Weight
873 KB
Volume
25
Category
Article
ISSN
0301-0449

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Duplication of distal thumb phalanx in S
Duplication of distal thumb phalanx in Shwachman-Diamond syndrome
✍ Dror, Yigal; Durie, Peter; Marcon, Peggy; Freedman, Melvin H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 2 views

Shwachman-Diamond syndrome (SDS) comprises of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. We report on a child with SDS and duplication of distal thumb phalanx. This combination has not been reported previously. We suggest that supernumerary thumb is l

Identification of novel mutations in pat
Identification of novel mutations in patients with Shwachman-Diamond syndrome
✍ Elena Nicolis; Alberto Bonizzato; Baroukh M. Assael; Marco Cipolli 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

## Communicated by Mireille Claustres Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. The SDS disease locus was mapped to chromosome 7q11 and disease-associated m

Fechtner syndrome: Clinical and genetic
Fechtner syndrome: Clinical and genetic aspects
✍ Gershoni-Baruch, R. ;Baruch, Y. ;Viener, A. ;Lichtig, C. ;Opitz, John M. ;Reynol 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 791 KB