✦ LIBER ✦

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

✍ Scribed by Shaheen, Ranad; Aglan, Mona; Keppler-Noreuil, Kim; Faqeih, Eissa; Ansari, Shinu; Horton, Kim; Ashour, Adel; Zaki, Maha S.; Al-Zahrani, Fatema; Cueto-González, Anna M.; Abdel-Salam, Ghada; Temtamy, Samia; Alkuraya, Fowzan S.

Book ID: 122136973
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 956 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.02.012

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Genetic and mutational heterogeneity of

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia

✍ R. El Kares; M. R. Barbouche; H. Elloumi-Zghal; M. Bejaoui; J. Chemli; F. Mellou 📂 Article 📅 2006 🏛 Nature Publishing Group 🌐 English ⚖ 279 KB

Evidence of genetic heterogeneity in aut

Evidence of genetic heterogeneity in autosomal recessive congenital fibrosis of the extraocular muscles

✍ Elias I Traboulsi; Bjorn A Lee; Adel Mousawi; A.R Khamis; Elizabeth C Engle 📂 Article 📅 2000 🏛 Elsevier Science 🌐 English ⚖ 293 KB

Loss-of-Function Mutations in HPSE2 Caus

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

✍ Junfeng Pang; Shu Zhang; Ping Yang; Bobbilynn Hawkins-Lee; Jixin Zhong; Yushan Z 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 513 KB

Loss-of-Function Mutations in HPSE2 Caus

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

✍ Junfeng Pang; Shu Zhang; Ping Yang; Bobbilynn Hawkins-Lee; Jixin Zhong; Yushan Z 📂 Article 📅 2010 🏛 American Society of Human Genetics 🌐 English ⚖ 29 KB

Estimation of the frequency of occult mu

Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disorders

✍ William J. Kimberling 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 185 KB 👁 1 views

The routine testing for pathologic mutation(s) in a patient's DNA has become the foundation of modern molecular genetic diagnosis. It is especially valuable when the phenotype shows genetic heterogeneity, and its importance will grow as treatments become genotype specific. However, the technology of

Adams–Oliver syndrome in siblings with c

Adams–Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant

✍ Robin R. McGoey; Yves Lacassie 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB 👁 2 views

## Abstract Adams–Oliver syndrome (AOS) is a well‐known rare syndrome of cutis aplasia in combination with limb defects. Recent reports have been published discussing the clinical variability and apparent genetic heterogeneity seen in some affected individuals and families with particular attention