Woolly hair in tricho-dento-osseous syndrome.

Perandones-González, Héctor; Rusiñol-Batlle, Lluis; Bosquez, David; Brunet-Llobet, Lluis; Ivars, Marta; Yubero, Délia; Sarig, Ofer; Malki, Liron; Peled, Alon; Sprecher, Eli; Baselga, Eulalia

Perandones-González, Héctor; Rusiñol-Batlle, Lluis; Bosquez, David; Brunet-Llobet, Lluis; Ivars, Marta; Yubero, Délia; Sarig, Ofer; Malki, Liron; Peled, Alon; Sprecher, Eli; Baselga, Eulalia.

Afiliação

Perandones-González H; Complejo Asistencial Universitario de León, Leon, Spain.
Rusiñol-Batlle L; Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Bosquez D; Department of Dermatology, Sant Joan de Deu Barcelona, Barcelona, Spain.
Brunet-Llobet L; Department of Odontology, Sant Joan de Deu Barcelona, Barcelona, Spain.
Ivars M; Department of Dermatology, Sant Joan de Deu Barcelona, Barcelona, Spain.
Yubero D; Department of Clinical Biochemistry, Sant Joan de Deu Barcelona, Barcelona, Spain.
Sarig O; Department of Clinical Biochemistry and Molecular Medicine, Institut de Recerca Sant Joan de Déu and CIBERER16 ISCIII, Barcelona, Spain.
Malki L; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Peled A; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Sprecher E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Baselga E; Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

Pediatr Dermatol ; 40(6): 1094-1096, 2023.

Article em En | MEDLINE | ID: mdl-36973173

ABSTRACT

ABSTRACT

Tricho-dento-osseous syndrome (TDOS) is a rare ectodermal dysplasia caused by mutations in the DLX3 gene and it is not usually included as a cause of syndromic woolly hair. We present a new case of TDOS with a novel DLX3 variant and woolly hair.

Assuntos

Doenças do Cabelo; Fatores de Transcrição; Humanos; Fatores de Transcrição/genética; Proteínas de Homeodomínio/genética; Doenças do Cabelo/diagnóstico; Doenças do Cabelo/genética; Cabelo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Doenças do Cabelo Limite: Humans Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2023 Tipo de documento: Article

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