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DNA‐based prenatal diagnosis of plectin‐deficient epidermolysis bullosa simplex associated with pyloric atresia

H Nakamura, K Natsuga, W Nishie… - International journal …, 2011 - Wiley Online Library
Background Mutations in the plectin gene (PLEC) generally lead to epidermolysis bullosa simplex
(EBS) associated with muscular dystrophy. It has been recently demonstrated that PLEC mutations
can also cause a different clinical subtype, EBS associated with pyloric atresia (EBS-PA), ...
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Pyloric atresia.

B Fontenot, C Streck, A Hebra, R Cina… - The American …, 2011 - ncbi.nlm.nih.gov
1. Am Surg. 2011 Feb;77(2):249-50. Pyloric atresia. Fontenot B, Streck C, Hebra A,
Cina R, Gutierrez P. Medical University of South Carolina Children's Hospital,
Charleston 29425, USA. PMID: 21337899 [PubMed - in process].
All 2 versions

Hereditary multiple intestinal atresia (HMIA) with severe combined immunodeficiency (SCID): a case report of two siblings and review of the literature on MIA, HMIA …

YAH Ali, S Rahman, V Bhat, SA Thani… - BMJ Case …, 2011 - casereports.bmj.com
... In 2006, Shorter et al4 proposed a classification of familial intestinal atresia as follows:
class 1, pyloric atresia; class 2, duodenal atresia; class 3, HMIA; class 4, apple peel
atresia; and class 5, colonic atresia. HMIA affects both ...
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Molecular genetic assays for inherited epidermolysis bullosa

C Has - Clinics in Dermatology, 2011 - Elsevier
... PLEC1, Plectin, Ms, ns, spl, del, ins, gross ins, gross del, 47, EBS with muscular dystrophy, EBS
with pyloric atresia, EBS Ogna, ITGB4, α6β4 integrin, Del, 1, EBS, Jonkman (2002) 39. ... ITGB4,
α6β4 integrin, Ms, ns, spl, del, ins, indels, gross del, 67, JEB with pyloric atresia, Ms, ...
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Ultrastructure and molecular pathogenesis of epidermolysis bullosa

S Shinkuma, JR McMillan… - Clinics in Dermatology, 2011 - Elsevier
... View Within Article. Rare types of EBS, including EBS with muscular dystrophy (EBS-MD) and
EBS with pyloric atresia (EBS-PA), are caused by plectin gene mutations. ... JEB can be further
divided into three subtypes: Herlitz JEB, non-Herlitz JEB, and JEB with pyloric atresia. ...
Related articles - All 3 versions

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