✦ LIBER ✦

Asymptomatic autosomal dominant hypoparathyroidism in six family members of a symptomatic infant

✍ Scribed by Lucilia Martins; Jorge Biscaia; H. Carmona da Mota

Book ID: 119461591
Publisher: Elsevier Science
Year: 1985
Tongue: English
Weight: 166 KB
Volume: 106
Category: Article
ISSN: 1097-6833
DOI: 10.1016/s0022-3476(85)80492-3

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Audiologic Investigation of Autosomal Do

Audiologic Investigation of Autosomal Dominant Hereditary Sensory Hearing Loss in a Family of 507 Members in 6 Generations

✍ X. K. BU; M. D. YING; H. B. GUO; Z. CAO 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 123 KB

Identification and characterization of C

Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism

✍ Hyon-Seung Yi; Young Sil Eom; Ie Byung Park; Sangho Lee; Suntaek Hong; Harald Jü 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 479 KB

Symptomatic autosomal dominant polycysti

Symptomatic autosomal dominant polycystic liver disease (ADPLD) without polycystic kidney disease (ADPKD) in two generations of a family

✍ Deepika Laxmi Koya; Ellen W. Shaw 📂 Article 📅 2003 🏛 Nature Publishing Group 🌐 English ⚖ 22 KB

Autosomal dominant atretic cephalocele w

Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

✍ D.R. Carvalho; L.R. Giuliani; G.N. Simão; A.C. Santos; J.M. Pina-Neto 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB 👁 3 views

## Abstract Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheri

The Ethics of Contacting Family Members

The Ethics of Contacting Family Members of a Subject in a Genetic Research Study to Return Results for an Autosomal Dominant Syndrome

✍ Taylor, Holly A.; Wilfond, Benjamin S. 📂 Article 📅 2013 🏛 Taylor and Francis Group 🌐 English ⚖ 28 KB

Autosomal dominant infant GERD: Exclusio

Autosomal dominant infant GERD: Exclusion of a 13q14 locus in 6 well-characterized families suggests genetic heterogeneity

✍ Orenstein, Susan R.; Shalaby, Theresa M.; Pfuetzer, Roland H.; Michael Barmada, 📂 Article 📅 2001 🏛 Elsevier Science 🌐 English ⚖ 176 KB