Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Elaraby, Nesma M; Ahmed, Hoda A; Ashaat, Neveen A; Tawfik, Sameh; Ahmed, Mahmoud K H; Hassib, Nehal F; Ashaat, Engy A

Elaraby, Nesma M; Ahmed, Hoda A; Ashaat, Neveen A; Tawfik, Sameh; Ahmed, Mahmoud K H; Hassib, Nehal F; Ashaat, Engy A.

Afiliación

Elaraby NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. nm.elaraby@nrc.sci.eg.
Ahmed HA; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Ashaat NA; Genetics Department, Ain Shams University, Cairo, Egypt.
Tawfik S; Pediatric Department, Maadi Hospital, Cairo, Egypt.
Ahmed MKH; Prenatal Diagnosis and Fetal Medicine 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.
Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.

J Mol Neurosci ; 72(11): 2242-2251, 2022 Nov.

Article en En | MEDLINE | ID: mdl-36251212

Asunto(s)

Alopecia; Discapacidad Intelectual; Humanos; Síndrome

Palabras clave

Alopecia-intellectual disability syndrome 4 (APMR4); LSS gene; Segregation; Whole-exome sequencing

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Alopecia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: J Mol Neurosci Asunto de la revista: BIOLOGIA MOLECULAR / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Egipto

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