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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González, Francisca; Wadhwa, Saruchi; Rodriguez-Zabala, Maria; Kumar, Somesh; Aza-Carmona, Miriam; Sentchordi-Montané, Lucia; Alonso, Milagros; Ahmad, Istaq; Zahra, Sana; Kumar, Deepak; Kushwah, Neetu; Shamim, Uzma; Sait, Haseena; Kapoor, Seema; Roldán, Belen; Nishimura, Gen; Offiah, Amaka C; Faruq, Mohammed; Heath, Karen E.
Afiliação
  • Díaz-González F; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Wadhwa S; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Rodriguez-Zabala M; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
  • Kumar S; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Aza-Carmona M; CIBERER, ISCIII, Madrid, Spain.
  • Sentchordi-Montané L; Dept. of Pediatrics, Maulana Azad Medical College and Lok Nayak Hospital, New Delhi, India.
  • Alonso M; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Ahmad I; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Zahra S; CIBERER, ISCIII, Madrid, Spain.
  • Kumar D; Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, UAM, Madrid, Spain.
  • Kushwah N; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, Hospital Universitario La Paz, Madrid, Spain.
  • Shamim U; Dept. of Pediatrics, Hospital Universitario Infanta Leonor, Madrid, Spain.
  • Sait H; Dept. of Pediatrics, Universidad Complutense de Madrid, Madrid, Spain.
  • Kapoor S; Dept. of Pediatric Endocrinology, Hospital Universitario Ramon y Cajal, Madrid, Spain.
  • Roldán B; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
  • Nishimura G; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
  • Offiah AC; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
  • Faruq M; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
  • Heath KE; Genomics and Molecular Medicine Division, CSIR-Institute of Genomics and Integrative Biology, New Delhi, India.
J Med Genet ; 59(1): 28-38, 2022 01.
Article em En | MEDLINE | ID: mdl-33106379
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Proteína Quinase Dependente de GMP Cíclico Tipo II / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Nanismo / Proteína Quinase Dependente de GMP Cíclico Tipo II / Mutação Tipo de estudo: Prognostic_studies Limite: Child / Female / Humans Idioma: En Revista: J Med Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha