𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Metaphyseal dysplasia: A new autosomal dominant type in a large German kindred

✍ Scribed by Braun, Hans-Steffen ;N�rnberg, Peter ;Tinschert, Sigrid

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
202 KB
Volume
101
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Autosomal dominant hypohidrotic ectoderm
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family
✍ Aswegan, Andrew L.; Josephson, Kevin D.; Mowbray, Rodney; Pauli, Richard M.; Spr 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were

Linkage analysis in a large kindred with
Linkage analysis in a large kindred with autosomal dominant transmission of polyglandular autoimmune disease type II (Schmidt syndrome)
✍ Butler, Merlin G. ;Hodes, M. E. ;Conneally, P. M. ;Biegel, Angenieta A. ;Wright, 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 1 views

Schmidt syndrome (PGA syndrome type 11) is a rare condition characterized by polyglandular failure. It is an autosomal dominant trait with variable expressivity that was inherited over four generations in an Indiana kindred. Association of HLA-B8 has been reported with Schmidt syndrome. Our proband

Hypotrichosis with spondyloepimetaphysea
Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome
✍ Whyte, Michael P. ;Petersen, Deborah J. ;McAlister, William H. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 468 KB 👁 1 views

We describe a family with a new disorder characterized by congenital hypotrichosis and spondyloepimetaphyseal dysplasia that results in mild rhizomelic short stature. Five individuals in 3 generations are affected with autosomal dominant inheritance.

Autosomal dominant inheritance in a larg
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer–Setleis syndrome)
✍ Luitgard M. Graul-Neumann; Karola M. Stieler; Ulrike Blume-Peytavi; Andreas Tzsc 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 336 KB 👁 1 views

## Abstract Focal facial dermal dysplasia (FFDD) (OMIM 227260) is a rare ectodermal disorder characterized by congenital bitemporal scar‐like depressions resembling forceps marks and variable additional facial manifestations. No gene defects or gene loci for FFDD are known to date. We report on a l

The gene for autosomal dominant hidrotic
The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region
✍ Radhakrishna, Uppala; Blouin, Jean-Louis; Mehenni, Hamid; Mehta, Timir Y.; Sheth 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 53 KB 👁 2 views

Hidrotic ectodermal dysplasia (HED), Clouston syndrome (MIM No. 129500), is an autosomal dominant disorder affecting the skin and its derivatives. It is characterized by alopecia, dysplastic nails in hands and feet, and hyperkeratosis of the palms and soles. We have studied a large Indian pedigree (