✦ LIBER ✦

Setleis syndrome: Three new cases and a review of the literature

✍ Scribed by McGaughran, Julie ;Aftimos, Salim

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 275 KB
Volume: 111
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10632

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Three new cases of the Schinzel-Giedion

Three new cases of the Schinzel-Giedion syndrome and review of the literature

✍ Labrune, Philippe ;Lyonnet, Stanislas ;Zupan, Véronique ;Imbert, Marie-Claire ;G 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 419 KB 👁 2 views

GAPO syndrome: Three new Brazilian cases

GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature

✍ Eny Maria Goloni-Bertollo; Mariangela Torreglosa Ruiz; Cristina B. Vendrame Golo 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB 👁 1 views

## Abstract The GAPO syndrome is an extremely rare autosomal recessive disease that presents as main characteristics evident growth retardation, alopecia, pseudoanodontia, progressive optic atrophy and a typical face. Until now, only 30 patients have been reported in the medical literature (nine of

Parkinsonism associated with Sjögren's s

Parkinsonism associated with Sjögren's syndrome: Three cases and a review of the literature

✍ Ruth H. Walker; Harry Spiera; Mitchell F. Brin; C. Warren Olanow 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB

New cases of Bohring–Opitz syndrome, upd

New cases of Bohring–Opitz syndrome, update, and critical review of the literature

✍ Axel Bohring; Grétel G. Oudesluijs; Dorothy K. Grange; Giuseppe Zampino; Patrick 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

Duplication 3p syndrome: Report of a new

Duplication 3p syndrome: Report of a new case and review of the literature

✍ Charrow, Joel ;Cohen, Maimon M. ;Meeker, Diana ;Opitz, John M. 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 1 views

## Abstract A review of the 17 previously reported cases of duplication 3p and study of a new patient who has a duplication of the chromosome segment 3p21→pter show a remarkably consistent phenotype among these patients and suggest some generalizations about prognosis. The manifestations include lo

Sebastian syndrome: Case report and revi

Sebastian syndrome: Case report and review of the literature

✍ Young, Guy; Luban, Naomi L.C.; White, James G. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 195 KB 👁 1 views

Macrothrombocytopenias (MTCP) are a heterogeneous group of disorders associated with thrombocytopenia and giant platelets, and may include other clinical or laboratory findings such as hereditary nephritis, sensorineural deafness, leukocyte inclusions, and cataracts. Patients with MTCP may have mild