Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.

Langeh, Nitika; Saluja, Sumedha; Ethayathulla, Abdul Samath; Jana, Manisha; Shukla, Rashmi; Palanichamy, Jayanth Kumar; Gupta, Neerja

Langeh, Nitika; Saluja, Sumedha; Ethayathulla, Abdul Samath; Jana, Manisha; Shukla, Rashmi; Palanichamy, Jayanth Kumar; Gupta, Neerja.

Afiliación

Langeh N; Department of Pediatrics, Division of Genetics, AIIMS, New Delhi, India.
Saluja S; Department of Biochemistry, AIIMS, New Delhi, India.
Ethayathulla AS; Department of Biophysics, AIIMS, New Delhi, India.
Jana M; Department of Radiodiagnosis, AIIMS, New Delhi, India.
Shukla R; Department of Pediatrics, Division of Genetics, AIIMS, New Delhi, India.
Palanichamy JK; Department of Biochemistry, AIIMS, New Delhi, India.
Gupta N; Department of Pediatrics, Division of Genetics, AIIMS, New Delhi, India.

Clin Genet ; 103(4): 478-483, 2023 04.

Article en En | MEDLINE | ID: mdl-36635612

Asunto(s)

Trastornos de los Cromosomas; Hermanos; Humanos; Trastornos de los Cromosomas/genética; Síndrome; Mosaicismo; Mutación; Aneuploidia; Proteínas Asociadas a Microtúbulos/genética; Proteínas Nucleares/genética

Palabras clave

Arnold-Chiari malformation; CEP57; centrosomal protein; growth retardation; mosaic variegated aneuploidy; radial ray defect; short stature

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos de los Cromosomas / Hermanos Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Clin Genet Año: 2023 Tipo del documento: Article País de afiliación: India Pais de publicación: Dinamarca

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