✦ LIBER ✦

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

✍ Scribed by Feigenbaum, Annette; Müller, Christine; Yale, Christopher; Kleinheinz, Johannes; Jezewski, Peter; Kehl, Hans Gerd; MacDougall, Mary; Rutsch, Frank; Hennekam, Raoul C.M.

Book ID: 118751206
Publisher: John Wiley and Sons
Year: 2013
Tongue: English
Weight: 412 KB
Volume: 161
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35732

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Non-syndromal round window atresia: an a

Non-syndromal round window atresia: an autosomal dominant genetic disorder with variable penetrance?

✍ A. Borrmann; W. Arnold 📂 Article 📅 2007 🏛 Springer-Verlag 🌐 English ⚖ 403 KB

Hyper-IgE Syndrome with Recurrent Infect

Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder

✍ Holland, Steven M.; Gallin, John I.; Greenberg, Frank; Hill, Suvimol C.; Malech, 📂 Article 📅 1999 🏛 Massachusetts Medical Society 🌐 English ⚖ 301 KB

Hyper-IgE Syndrome with Recurrent Infect

Hyper-IgE Syndrome with Recurrent Infections — An Autosomal Dominant Multisystem Disorder

✍ Holland, Steven M.; Gallin, John I.; Greenberg, Frank; Hill, Suvimol C.; Malech, 📂 Article 📅 1999 🏛 Massachusetts Medical Society 🌐 English ⚖ 301 KB

## Background The hyper-IgE syndrome with recur- rent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum. Associated facial and skeletal features have been recognized, but their frequency is unknown, and the ge

Asymmetric crying facies with microcepha

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity

✍ M. Cirillo Silengo; G. Lopez Bell; M. Biagioli; A. Guala; R. Bianco; P. Strandon 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 258 KB

Hydrops fetalis and pulmonary lymphangie

Hydrops fetalis and pulmonary lymphangiectasia due toFOXC2mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression

✍ Gwendolyn de Bruyn; Alexandra Casaer; Katrien Devolder; Geert Van Acker; Hilde L 📂 Article 📅 2011 🏛 Springer 🌐 English ⚖ 304 KB

An autosomal dominant triphalangeal thum

An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

✍ Radhakrishna, Uppala; Blouin, Jean-Louis; Solanki, Jitendra V.; Dhoriani, Ghansh 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 590 KB

Hereditary developmental abnormalities of the upper or lower limbs in humans are easily recognizable phenotypes that can be used in the mapping and cloning of genes involved in normal human development. We studied a large Indian pedigree (UR002) with an autosomal dominant triphalangeal thumb (TPT) a