All individuals with variants in gene PHACTR1

5 entries on 1 page. Showing entries 1 - 5.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00183075 23033978-Trio90 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00317979 Fam1Pat1 PubMed: Hamada 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - WEST see paper; ... 1 1 Johan den Dunnen
00317980 Fam2Pat2 PubMed: Hamada 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - WEST see paper; ... 1 1 Johan den Dunnen
00319921 PKMR51b PubMed: Riazuddin 2017 - - - Pakistan Pathan - - - - ID severe intellectual disability, speech delay, severe hypotonia, attention deficit hyperactivity disorder, inability to hold head, stand or walk 1 1 Johan den Dunnen
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