Disease #05352 (BCS (cornea, brittle, syndrome (BCS)))

Official abbreviation BCS
Name cornea, brittle, syndrome (BCS)
OMIM ID -
Inheritance -
Individuals reported having this disease 4
Phenotype entries for this disease 4
Associated with 2 genes PRDM5, ZNF469
Associated tissues -
Disease features -
Remarks -


Individuals

4 entries on 1 page. Showing entries 1 - 4.
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00143190 23680354-Pat3 PubMed: Rohrbach 2013, PubMed: Burkitt Wright 2013 - F yes Pakistan - - 0 - - BCS see paper, ... ZNF469 ZNF469 1 1 Johan den Dunnen
00143191 23680354-Pat1 PubMed: Rohrbach 2013 - F yes India - - 0 - - BCS see paper; ... ZNF469 ZNF469 1 1 Johan den Dunnen
00143192 23680354-Pat2 PubMed: Rohrbach 2013 - F no United Kingdom (Great Britain) - - 0 - - BCS see paper; ... ZNF469 ZNF469 2 1 Johan den Dunnen
00143193 22122778-Pat1 PubMed: Aldahmesh 2012 healthy first cousins parents F yes Saudi Arabia - - 0 - - BCS see paper, ..., blue sclerae, keratoconus BCO2, PRDM5 BCO2, PRDM5 2 1 Johan den Dunnen
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