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COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Mishra, Ranjana; Kulshreshtha, Samarth; Mandal, Kausik; Khurana, Ashok; Diego-Álvarez, Dan; Pradas, Laura; Saxena, Renu; Phadke, Shubha; Moirangthem, Amita; Masih, Suzena; Sud, Seema; Verma, Ishwar Chander; Dua Puri, Ratna.
Afiliação
  • Mishra R; Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.
  • Kulshreshtha S; Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.
  • Mandal K; Sanjay Gandhi Post-Graduate Institute, Lucknow, Uttar Pradesh, India.
  • Khurana A; The Ultrasound Lab, New Delhi, India.
  • Diego-Álvarez D; Centogene AG, Rostock, Germany.
  • Pradas L; Centogene AG, Rostock, Germany.
  • Saxena R; Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.
  • Phadke S; Sanjay Gandhi Post-Graduate Institute, Lucknow, Uttar Pradesh, India.
  • Moirangthem A; Sanjay Gandhi Post-Graduate Institute, Lucknow, Uttar Pradesh, India.
  • Masih S; Sanjay Gandhi Post-Graduate Institute, Lucknow, Uttar Pradesh, India.
  • Sud S; Department of CT Scan and MRI, Sir Gangaram Hospital, New Delhi, India.
  • Verma IC; Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.
  • Dua Puri R; Institute of Medical Genetics and Genomics, Sir Gangaram Hospital, New Delhi, India.
Am J Med Genet A ; 188(8): 2339-2350, 2022 08.
Article em En | MEDLINE | ID: mdl-35499143
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases / Doenças Cerebelares / Microcefalia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Transferases / Doenças Cerebelares / Microcefalia Tipo de estudo: Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia