All individuals with variants in gene PNPLA6

13 entries on 1 page. Showing entries 1 - 13.
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00029684 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 2 affecteds (brother/sister), unaffected carrier parents - - - - - - - - OMCS Laurence-Moon syndrome considered; see paper; ... 2 2 Johan den Dunnen
00029687 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 1 affected, unaffected parents M - - - - - - - OMCS see paper; ... 2 1 Johan den Dunnen
00029688 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 1 affected, unaffected parents M - - - - - - - OMCS see paper; .. 2 1 Johan den Dunnen
00029689 - PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 1 affected, unaffected parents M - - - - - - - LNMS see paper; .. 2 1 Johan den Dunnen
00029690 - PubMed: Patton 1986, PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 1 affected, unaffected parents M - - white - - - - OMCS see paper .. 2 1 Johan den Dunnen
00029691 - PubMed: Chalvon-Demersay 1993, PubMed: Hufnagel 2015, Journal: Hufnagel 2015 2-generation family, 5 affecteds brothers/sisters (3F, 2M) - no France - - - - - LNMS see paper; ,, 2 5 Johan den Dunnen
00164431 - - - F - (Germany) - - - - - ? HP:0001251 (Ataxia) 1 1 IMGAG
00292208 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 22 Mohammed Faruq
00325461 3337 PubMed: Zenteno 2020 - - - Mexico - - - - - retinal disease Leber congenital amaurosis 1 1 Johan den Dunnen
00333955 417 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - retinal disease clinical category IA2b 2 2 LOVD
00374811 S-4602 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00426918 24_27 PubMed: Zhu 2022 family 24, individual 27 M - - - - - - - retinal disease - 1 1 LOVD
00460929 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
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