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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-38072398
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Family / Exome Limits: Humans Language: En Journal: Clin Genet Year: 2024 Type: Article Affiliation country: India
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Family / Exome Limits: Humans Language: En Journal: Clin Genet Year: 2024 Type: Article Affiliation country: India