All individuals with variants in gene CHST3

4 entries on 1 page. Showing entries 1 - 4.
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00079372 - PubMed: Hermanns 2008, Journal: Hermanns 2008 2-generation family, 1 affected, unaffected heterozygous carrier parents, unaffected sister M no Spain - - 0 - - Spondyloepiphyseal dysplasia with congenital joint dislocations at birth joint dislocations, short stature; breech presentation, post natal short stature (5y 90 cm (<3rd)); elbow joint subluxation or limited extension, no hipdysplasia/dislocation, knee luxation or genu recurvatum, club feet 2 1 Johan den Dunnen
00290133 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00290134 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00331360 15DG1370 PubMed: Maddirevula 2018 isolated case F yes - Arab - 0 - - skeletal dysplasia Short stature, Knee dislocation, Congenital bilateral hip dislocation, Downslanted palpebr Yes 1 1 LOVD
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