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Congenital Malformations

Citations 1-10 of 13 total displayed.

Most recent content (1 Mar 2008):

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. [Abstract] [Full text] [PDF]  

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. [Abstract] [Full text] [PDF]  

Observations
Self-Healing Collodion Membrane and Mild Nonbullous Congenital Ichthyosiform Erythroderma Due to 2 Novel Mutations in the ALOX12B Gene
Mandy Harting; Nicola Brunetti-Pierri; C. Stanley Chan; Joslyn Kirby; Megan K. Dishop; Gabriele Richard; Fernando Scaglia; Albert C. Yan; Moise L. Levy
Arch Dermatol 2008; 144: 351-356. [Abstract] [Full text] [PDF]  

Editorials
Molecular Genetics as a Diagnostic and Prognostic Aid in the Assessment of Neonates With Red, Scaly Genodermatoses: Work Still in Progress
Suzanne E. Clements; John A. McGrath
Arch Dermatol 2008; 144: 387-388. [Extract] [Full text] [PDF]  

Past content (since Oct 2000):

Correspondence
Encephalocraniocutaneous Lipomatosis With Didymosis Aplasticopsilolipara
Karola Maria Stieler; Susanne Astner; Georg Bohner; Natalie Garcia Bartels; Hans Proquitté; Wolfram Sterry; Norbert Haas; Ulrike Blume-Peytavi
Arch Dermatol 2008; 144: 266-268. [Extract] [Full text] [PDF]  

Observations
A Clinical, Histologic, and Molecular Study of 9 Cases of Congenital Dermatofibrosarcoma Protuberans
Georges Maire; Sylvie Fraitag; Louise Galmiche; Frédérique Keslair; Nathalie Ebran; Marie-José Terrier-Lacombe; Yves de Prost; Florence Pedeutour
Arch Dermatol 2007; 143: 203-210. [Abstract] [Full text] [PDF]  

Studies
Bilateral Facial Capillary Malformation Associated With Eye and Brain Abnormalities
Juliette Mazereeuw-Hautier; Samira Syed; John I. Harper
Arch Dermatol 2006; 142: 994-998. [Abstract] [Full text] [PDF]  

Observations
PELVIS Syndrome
Céline Girard; Michèle Bigorre; Bernard Guillot; Didier Bessis
Arch Dermatol 2006; 142: 884-888. [Abstract] [Full text] [PDF]  

Off-Center Fold
Atrophic Congenital Lesion on the Back—Diagnosis
Arch Dermatol 2006; 142: 921-e. [Extract] [Full text] [PDF]  

Off-Center Fold
Atrophic Congenital Lesion on the Back—Quiz Case
José M. Martín; Esperanza Jordá; Carlos Monteagudo; Vicent Alonso; Luis Calduch
Arch Dermatol 2006; 142: 921-d. [Extract] [Full text] [PDF]  

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