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A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.

• Authors : Zhu B; Department of Pediatrics, The First Hospital of China Medical University, No. 155 Nanjing North Street, Heping District, Shenyang, 110001, Liaoning Province, People's Republic of China.; Jiang H

Subjects: Mutation*; Asian People/Asian People/Asian People/*genetics ; Bartter Syndrome/Bartter Syndrome/Bartter Syndrome/*genetics Bartter syndrome, type 3; Pituitary dwarfism 1

• Source: BMC medical genetics [BMC Med Genet] 2019 Aug 13; Vol. 20 (1), pp. 137. Date of Electronic Publication: 2019 Aug 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report

• Authors : Binlu Zhu; Hong Jiang; Meiling Cao

Subjects: Bartter syndrome; CLCNKB; Growth hormone deficiency

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)

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Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka.

• Authors : Indika, Neluwa Liyanage Ruwan¹ ; Vidanapathirana, Dinesha Maduri² ; Dilanthi, Hewa Warawitage³

• Source: BMC Medical Genetics. 5/24/2019, Vol. 20 Issue 1, pN.PAG-N.PAG. 1p.

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Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

• Authors : Neluwa Liyanage Ruwan Indika; Dinesha Maduri Vidanapathirana; Hewa Warawitage Dilanthi

Subjects: Cystic fibrosis; Sri Lanka; Mutations

• Source: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-7 (2019)

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