TY - JOUR
T1 - Mutación en el gen EDA1, Ala349Thr en paciente con displasia ectodérmica hipohidrótica ligada a X
AU - Salas-Alanis, Julio C.
AU - Cepeda-Valdés, Rodrigo
AU - González-Santos, Adriana
AU - Amaya-Guerra, Mario
AU - Kurban, Mazen
AU - Christiano, Angela M.
N1 - Copyright:
Copyright 2012 Elsevier B.V., All rights reserved.
PY - 2011/12/1
Y1 - 2011/12/1
N2 - Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
AB - Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Clinical characteristic are frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and anodontia. Those affected show great intolerance to heat. We report the first Mexican 2-year-old boy with an Ala349Thr missense mutation from Tamaulipas, México.
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UR - https://www.mendeley.com/catalogue/9acf5c5b-fb90-3975-ba56-e764cba7a93f/
U2 - 10.4067/S0034-98872011001200011
DO - 10.4067/S0034-98872011001200011
M3 - Article
SN - 0034-9887
VL - 139
SP - 1601
EP - 1604
JO - Revista Medica de Chile
JF - Revista Medica de Chile
IS - 12
ER -