All individuals with variants in gene AMPD1

8 entries on 1 page. Showing entries 1 - 8.
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00000024 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00080163 - PubMed: Michot et al.2012 - M ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080165 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses 1 1 Francesca Marta Elli
00080166 - PubMed: Michot et al.2012 - F ? - (not applicable) - - 0 - - ACRDYS-1 PTH resistance, TSH resistance, short stature, brachydactily, IUGR, cone-shaped epiphyses 1 1 Francesca Marta Elli
00248448 Fam1Pat4 PubMed: Dieterich 2013 - - yes Mali Malian - 0 - - arthrogryposis see paper; …, extension contractures knees; congenital hip dislocation, flexion contractures fingers III-V; talus, talus valgus or varus; short neck; diminished muscle mass, central tongue atrophy; no pterygia; third trimester knee extension on ultra-sound 1 1 Johan den Dunnen
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