Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology

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Plectin Gene Mutations Can Cause Epidermolysis Bullosa with Pyloric Atresia Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology Volume 124, Issue 1, Pages 111-115 (January 2005) DOI: 10.1111/j.0022-202X.2004.23564.x Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Nuclear pedigrees of the families with epidermolysis bullosa with pyloric atresia (EB-PA). Solid symbols denote children who died from complications of the disease shortly after birth. Note consanguinity in each family. Journal of Investigative Dermatology 2005 124, 111-115DOI: (10.1111/j.0022-202X.2004.23564.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Nucleotide sequencing data documenting mutations in the PLEC1 gene in Families 1–4 with epidermolysis bullosa (EB) with pyloric atresia. Family 1: The proband is homozygous and the parents are heterozygous for a 4-bp deletion mutation, 1563del4. Family 2: The proband is homozygous and the parents are heterozygous for the nonsense mutation Q305X. Family 3: The proband is homozygous and the parents (mother only shown) are heterozygous for the nonsense mutation R3029X. Family 4: The parents (mother only shown) are heterozygous for a 21-bp deletion mutation. No DNA was available from the proband, whereas a normal control sequence is shown for reference. Journal of Investigative Dermatology 2005 124, 111-115DOI: (10.1111/j.0022-202X.2004.23564.x) Copyright © 2005 The Society for Investigative Dermatology, Inc Terms and Conditions