Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource, 1 online resource.
Language
Englisch

Bibliographic citation
Maternal mosaicism in SSBP1 causing optic atrophy with retinal degeneration: implications for genetic counseling ; volume:18 ; number:1 ; day:31 ; month:5 ; year:2023 ; pages:1-5 ; date:12.2023
Orphanet journal of rare diseases ; 18, Heft 1 (31.5.2023), 1-5, 12.2023

Creator
Chang, Yin-Hsi
Kang, Eugene Yu-Chuan
Liu, Laura
Jenny, Laura A.
Khang, Rin
Seo, Go Hun
Lee, Hane
Chen, Kuan-Jen
Wu, Wei-Chi
Hsiao, Meng-Chang
Wang, Nan-Kai
Contributor
SpringerLink (Online service)

DOI
10.1186/s13023-023-02748-9
URN
urn:nbn:de:101:1-2023091208563242840149
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
14.08.2025, 10:45 AM CEST

Data provider

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Associated

  • Chang, Yin-Hsi
  • Kang, Eugene Yu-Chuan
  • Liu, Laura
  • Jenny, Laura A.
  • Khang, Rin
  • Seo, Go Hun
  • Lee, Hane
  • Chen, Kuan-Jen
  • Wu, Wei-Chi
  • Hsiao, Meng-Chang
  • Wang, Nan-Kai
  • SpringerLink (Online service)

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