Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

Ramon Y. Birnbaum; Daniella Landau; Khalil Elbedour; Rivka Ofir; Ohad S. Birk; Rivka Carmi

doi:10.1002/ajmg.a.31903

Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

Ramon Y. Birnbaum
, Daniella Landau
, Khalil Elbedour
, Rivka Ofir
, Ohad S. Birk
, Rivka Carmi

Research output: Contribution to journal › Letter › peer-review

24 Scopus citations

Original language	English
Pages (from-to)	1063-1066
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	8
DOIs	https://doi.org/10.1002/ajmg.a.31903
State	Published - 15 Apr 2008

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.31903

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Birnbaum, R. Y., Landau, D., Elbedour, K., Ofir, R., Birk, O. S., & Carmi, R. (2008). Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. American Journal of Medical Genetics, Part A, 146(8), 1063-1066. https://doi.org/10.1002/ajmg.a.31903

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title = "Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients",

author = "Birnbaum, \{Ramon Y.\} and Daniella Landau and Khalil Elbedour and Rivka Ofir and Birk, \{Ohad S.\} and Rivka Carmi",

year = "2008",

month = apr,

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doi = "10.1002/ajmg.a.31903",

language = "English",

volume = "146",

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Birnbaum, RY, Landau, D, Elbedour, K, Ofir, R , Birk, OS & Carmi, R 2008, 'Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients', American Journal of Medical Genetics, Part A, vol. 146, no. 8, pp. 1063-1066. https://doi.org/10.1002/ajmg.a.31903

Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. / Birnbaum, Ramon Y.; Landau, Daniella; Elbedour, Khalil et al.
In: American Journal of Medical Genetics, Part A, Vol. 146, No. 8, 15.04.2008, p. 1063-1066.

Research output: Contribution to journal › Letter › peer-review

TY - JOUR

T1 - Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

AU - Birnbaum, Ramon Y.

AU - Landau, Daniella

AU - Elbedour, Khalil

AU - Ofir, Rivka

AU - Birk, Ohad S.

AU - Carmi, Rivka

PY - 2008/4/15

Y1 - 2008/4/15

UR - https://www.scopus.com/pages/publications/42949147509

U2 - 10.1002/ajmg.a.31903

DO - 10.1002/ajmg.a.31903

M3 - Letter

C2 - 18348258

AN - SCOPUS:42949147509

SN - 1552-4825

VL - 146

SP - 1063

EP - 1066

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -

Birnbaum RY, Landau D, Elbedour K, Ofir R , Birk OS , Carmi R. Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients. American Journal of Medical Genetics, Part A. 2008 Apr 15;146(8):1063-1066. doi: 10.1002/ajmg.a.31903

Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

ASJC Scopus subject areas

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