Novel autosomal recessive LAMA3
 and PLEC
 variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families

Junctional Epidermolysis Bullosa

Faculty Opinions recommendation of Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718506474.793543194 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

Founder Mutation ◽

Junctional Epidermolysis Bullosa with Pyloric Stenosis Presenting with Electron Microscopic Findings Suggestive of Epidermolysis Bullosa Simplex

Pediatric Dermatology ◽

10.1046/j.1525-1470.2000.017005395.x ◽

2000 ◽

Vol 17 (5) ◽

pp. 395-398 ◽

Cited By ~ 6

Author(s):

Norman Wasel ◽

Halliday Idikio ◽

Gordon Lees ◽

Alfons Krol ◽

Andrew N. Lin

Keyword(s):

Pyloric Stenosis ◽

Epidermolysis Bullosa ◽

Electron Microscopic ◽

Junctional Epidermolysis Bullosa ◽

Microscopic Findings

Epidermolysis Bullosa Simplex with Muscular Dystrophy

10.1007/springerreference_109382 ◽

2012 ◽

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Plectin deficient epidermolysis bullosa simplex with 27-year-history of muscular dystrophy

Journal of Dermatological Science ◽

10.1016/j.jdermsci.2004.11.003 ◽

2005 ◽

Vol 37 (2) ◽

pp. 87-93 ◽

Cited By ~ 12

Author(s):

Yoshie Takahashi ◽

Fatima Rouan ◽

Jouni Uitto ◽

Akemi Ishida-Yamamoto ◽

Hajime Iizuka ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

History Of

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

Journal of Investigative Dermatology ◽

10.1038/jid.2010.19 ◽

2010 ◽

Vol 130 (6) ◽

pp. 1551-1557 ◽

Cited By ~ 97

Author(s):

Richard W. Groves ◽

Lu Liu ◽

Patricia J. Dopping-Hepenstal ◽

Hugh S. Markus ◽

Patricia A. Lovell ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Nonsense Mutation ◽

Autosomal Recessive ◽

Coiled Coil ◽

Coiled Coil Domain ◽

Gene Coding ◽

Homozygous Nonsense Mutation

Epidermolysis Bullosa Simplex Associated With Muscular Dystrophy: A New Case

Pediatric Dermatology ◽

10.1111/j.1525-1470.1994.tb00102.x ◽

1994 ◽

Vol 11 (4) ◽

pp. 342-345 ◽

Cited By ~ 5

Author(s):

Annallsa Patrizi ◽

Vito Lernia ◽

Iria Neri ◽

Lucilla Badiali Giorgi ◽

Massimo Mast

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Integrins A6 and B4 and Their Role in Junctional Epidermolysis Bullosa and Recessive Epidermolysis Bullosa Simplex

Blistering Diseases ◽

10.1007/978-3-662-45698-9_8 ◽

2015 ◽

pp. 85-90

Author(s):

Ningning Dang ◽

Dédée F. Murrell

Keyword(s):

Epidermolysis Bullosa ◽

Junctional Epidermolysis Bullosa

Autosomal recessive epidermolysis bullosa simplex: report of three cases from India

Clinical and Experimental Dermatology ◽

10.1111/ced.13182 ◽

2017 ◽

Vol 42 (7) ◽

pp. 800-803 ◽

Cited By ~ 1

Author(s):

V. K. Yenamandra ◽

K. V. Shamsudheen ◽

R. C. Madhumita ◽

J. Rijith ◽

V. Ankit ◽

...

Keyword(s):

Epidermolysis Bullosa ◽

Autosomal Recessive ◽

New mutations in thePLECgene in a Chinese patient with epidermolysis bullosa simplex with muscular dystrophy

Clinical and Experimental Dermatology ◽

10.1111/ced.12116 ◽

2013 ◽

pp. n/a-n/a

Author(s):

Q. Chen ◽

Z. M. Lin ◽

H. J. Wang ◽

J. Zhang ◽

J. H. Yin ◽

...

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽

Chinese Patient ◽

New Mutations

Pediatric ophthalmoplegia and ptosis associated with epidermolysis bullosa simplex-muscular dystrophy and PLEC mutations

Journal of American Association for Pediatric Ophthalmology and Strabismus ◽

10.1016/j.jaapos.2017.07.113 ◽

2017 ◽

Vol 21 (4) ◽

pp. e32

Author(s):

W. Walker Motley ◽

Wejdan Al-Thawabieh ◽

Anne W. Lucky ◽

Brenda Wong

Keyword(s):

Muscular Dystrophy ◽

Epidermolysis Bullosa ◽