✦ LIBER ✦

GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism

✍ Scribed by Elif F. Demirgüneş; Sibel Ersoy-Evans; Ayşen Karaduman

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 181 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32686

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

The role of pulmonary inflammation in th

The role of pulmonary inflammation in the development of pulmonary hypertension in newborn with meconium aspiration syndrome (MAS)

✍ Jing M. Wu; Tsu F. Yeh; Jiu Y. Wang; Jieh N. Wang; Yuh J. Lin; Wu S. Hsieh; Chyi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 458 KB 👁 1 views

Pulmonary hypertension after liver trans

Pulmonary hypertension after liver transplantation in patients with antecedent hepatopulmonary syndrome: A report of 2 cases and review of the literature

✍ Federico Aucejo; Charles Miller; David Vogt; Bijan Eghtesad; Shunichi Nakagawa; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 79 KB 👁 1 views

Hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPHTN) are distinct clinical entities that may complicate liver disease. Although HPS and PPHTN are different, several reports describe 6 patients in whom both conditions have occurred, either concurrently or sequentially, sometimes wit

A child with features of Goldenhar syndr

A child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: Is this a candidate region for the syndrome?

✍ J. Xu; Y.S. Fan; V.M. Siu 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB 👁 2 views

Cerebral arterial stenoses and stroke: n

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

✍ Holger Thiele; Marcel du Moulin; Katarzyna Barczyk; Christel George; Wolfram Sch 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 655 KB

Aicardi-Goutières syndrome (AGS) is a rare inborn multisystemic disease, resembling intrauterine viral infection and resulting in psychomotor retardation, spasticity and chilblain-like skin lesions. Diagnostic criteria include intracerebral calcifications and elevated interferon-alpha and pterin lev

Mutation screening of the fibrillin-1 (F

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

✍ Kathrin Rommel; Matthias Karck; Axel Haverich; Jörg Schmidtke; Mine Arslan-Kirch 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 38 KB

Mutations in the gene encoding fibrillin-1 (FBN1) cause Marfan syndrome (MFS) and other related connective tissue disorders. In this study we performed SSCP to analyze all 65 exons of the FBN1 gene in 76 patients presenting with classical MFS or related phenotypes. We report 7 missense mutations, 3