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Genetic Disorders
Citations 1-10 of 101 total displayed.
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Most recent content
(1 Jun 2008):
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- Correspondence
Torsemide-Induced Pseudoporphyria
- Alicia Pérez-Bustillo; Pedro Sánchez-Sambucety; Óscar Suárez-Amor; Manuel Angel Rodríiguez-Prieto
Arch Dermatol 2008; 144: 812-813.
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Past content
(since Feb 1998):
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- Studies
Heterozygosity for a Single Mutation in the ABCC6 Gene May Closely Mimic PXE: Consequences of This Phenotype Overlap for the Definition of PXE
- Ludovic Martin; Frédéric Maître; Pierre Bonicel; Patrick Daudon; Christophe Verny; Dominique Bonneau; Olivier Le Saux; Nicolas Chassaing
Arch Dermatol 2008; 144: 301-306.
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- Studies
A Romanian Population Isolate With High Frequency of Vitiligo and Associated Autoimmune Diseases
- Stanca A. Birlea; Pamela R. Fain; Richard A. Spritz
Arch Dermatol 2008; 144: 310-316.
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- Studies
Primary Erythermalgia as a Sodium Channelopathy: Screening for SCN9A Mutations: Exclusion of a Causal Role of SCN10A and SCN11A
- Joost P. H. Drenth; Rene H. M. te Morsche; Sahar Mansour; Peter S. Mortimer
Arch Dermatol 2008; 144: 320-324.
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- Observations
Between Light and Dark, the Chimera Comes Out
- Dan Lipsker; Elisabeth Flory; Marie-Louise Wiesel; Daniel Hanau; Henri de la Salle
Arch Dermatol 2008; 144: 327-330.
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- Observations
Defective Lamellar Granule Secretion in Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome Caused by a Mutation in VPS33B
- Dov Hershkovitz; Hannah Mandel; Akemi Ishida-Yamamoto; Ilana Chefetz; Bayan Hino; Anthony Luder; Margarita Indelman; Reuven Bergman; Eli Sprecher
Arch Dermatol 2008; 144: 334-340.
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- Observations
X-Linked Ectodermal Dysplasia With Immunodeficiency Caused by NEMO Mutation: Early Recognition and Diagnosis
- Anthony J. Mancini; Leslie P. Lawley; Gulbu Uzel
Arch Dermatol 2008; 144: 342-346.
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- Research Letters
MBL2 Functional Allelic Variants and Increased Risk for the Development of Atopic Dermatitis in Brazilian Children
- Lucas A. C. Brandão; Rafael L. Guimarães; Matilde Carrera; Michele Milanese; Ludovica Segat; José Luiz de Lima-Filho; Luiz Claudio Arraes; Sergio Crovella
Arch Dermatol 2008; 144: 412-413.
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- Correspondence
Linear and Whorled Nevoid Hypermelanosis: Unique Clinical Presentations and Their Possible Association With Chromosomal Abnormality inv(9)
- Seung Phil Hong; Seok-Yong Ahn; Won-Soo Lee
Arch Dermatol 2008; 144: 415-416.
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- Correspondence
Amelanotic Melanoma in a Patient With Rothmund-Thomson Syndrome
- Sarah M. Howell; David W. Bray
Arch Dermatol 2008; 144: 416-417.
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