✦ LIBER ✦

Complete absence of the permanent dentition: An autosomal recessive disorder

✍ Scribed by Gorlin, Robert J. ;Herman, Neal G. ;Moss, Stephen J.

Publisher: John Wiley and Sons
Year: 1980
Tongue: English
Weight: 126 KB
Volume: 5
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320050215

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Complete absence of the permanent dentit

Complete absence of the permanent dentition: An autosomal recessive disorder

✍ Bartsocas, Christos S. 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 97 KB

Atrial septal defect, ventricular septal

Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: An autosomal recessive disorder?

✍ Nordenberg, Dale F. ;Hanna, Brian ;Fouron, Jean-Claude ;Der Kaloustian, Vazken M 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 260 KB 👁 2 views

Megacystis-microcolon-intestinal hypoper

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), an autosomal recessive disorder: Clinical reports and review of the literature

✍ Annerén, Göran ;Meurling, Staffan ;Olsen, Leif 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 421 KB 👁 1 views

Agenesis of the corpus callosum, optic c

Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: An autosomal recessive disorder similar to Temtamy syndrome

✍ Jiang Li; Shilpa Shivakumar; Mari Wakahiro; Pratik Mukherjee; A. James Barkovich 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 192 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

An autosomal recessive disorder with glo

An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: Report of a kindred

✍ Salcedo, Jose R. 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 425 KB 👁 3 views