A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Elhossini, Rasha M; Sayed, Inas M; Hellal, Usama Saad; Mahmoud, Sarah A M; Aglan, Mona S; Hassib, Nehal F; Abdel-Hamid, Mohamed S

Elhossini, Rasha M; Sayed, Inas M; Hellal, Usama Saad; Mahmoud, Sarah A M; Aglan, Mona S; Hassib, Nehal F; Abdel-Hamid, Mohamed S.

Afiliación

Elhossini RM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Sayed IM; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hellal US; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Mahmoud SAM; Oral & Maxillofacial Pathology Department, Faculty of Dentistry, Cairo University, Cairo, Egypt.
Aglan MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Hassib NF; Orodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Abdel-Hamid MS; School of Dentistry, New Giza University, Giza, Egypt.

Am J Med Genet A ; 194(1): 39-45, 2024 Jan.

Article en En | MEDLINE | ID: mdl-37750049

Asunto(s)

Fibromatosis Gingival; Sobrecrecimiento Gingival; Hipertricosis; Discapacidad Intelectual; Masculino; Humanos; Fibromatosis Gingival/diagnóstico; Fibromatosis Gingival/genética; Hipertricosis/genética; Linaje; Sobrecrecimiento Gingival/complicaciones; Fenotipo; Síndrome; Atención Odontológica/efectos adversos; Discapacidad Intelectual/genética; Discapacidad Intelectual/complicaciones; Canales de Potasio/genética

Palabras clave

KCNK4; epilepsy; gingival fibromatosis; hypertrichosis; intellectual/developmental delay

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sobrecrecimiento Gingival / Fibromatosis Gingival / Hipertricosis / Discapacidad Intelectual Límite: Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article País de afiliación: Egipto

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