Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia.

Kamdar, Payal; Geetha, Thenral S; Palocaren, Thomas; Kandagaddala, Madhavi; Chinniah, Praveen Kumar; Murugan, Sakthivel; Vedam, Ramprasad; Danda, Sumita

Kamdar, Payal; Geetha, Thenral S; Palocaren, Thomas; Kandagaddala, Madhavi; Chinniah, Praveen Kumar; Murugan, Sakthivel; Vedam, Ramprasad; Danda, Sumita.

Afiliación

Kamdar P; Clinical Genetics, Christian Medical College, Vellore, India.
Geetha TS; MedGenome Labs, Bengaluru, India.
Palocaren T; Paediatric Orthopaedics, Christian Medical College, Vellore, India.
Kandagaddala M; Clinical Radiology, Christian Medical College, Vellore, India.
Chinniah PK; Clinical Radiology, Christian Medical College, Vellore, India.
Murugan S; MedGenome Labs, Bengaluru, India.
Vedam R; MedGenome Labs, Bengaluru, India.
Danda S; Clinical Genetics, Christian Medical College, Vellore, India.

Clin Genet ; 105(4): 453-454, 2024 04.

Article en En | MEDLINE | ID: mdl-38072398

Asunto(s)

Exoma; Familia; Humanos; Proteína Quinasa Dependiente de GMP Cíclico Tipo II/genética; Exoma/genética; Mutación/genética; Linaje

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Familia / Exoma Límite: Humans Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: India Pais de publicación: Dinamarca

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