Identification of a Novel 19-bp Deletion Mutation in <i>LTBP4</i> Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.

Gupta, Neerja; Langeh, Nitika; Sridharan, Aparajit; Kabra, Madhulika

Identification of a Novel 19-bp Deletion Mutation in LTBP4 Using Exome Sequencing in Two Siblings with Autosomal Recessive Cutis Laxa Type 1C.

Gupta, Neerja; Langeh, Nitika; Sridharan, Aparajit; Kabra, Madhulika.

Afiliação

Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Langeh N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Sridharan A; Strand Life Sciences, Bangalore, Karnataka, India.
Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.

J Pediatr Genet ; 9(2): 125-131, 2020 Jun.

Article em En | MEDLINE | ID: mdl-32341818

Palavras-chave

LTBP4; autosomal recessive cutis laxa; latent transforming growth factor

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Revista: J Pediatr Genet Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Índia País de publicação: Alemanha

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