All individuals with variants in gene PEX14

7 entries on 1 page. Showing entries 1 - 7.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00289468 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 12 Mohammed Faruq
00289469 - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 30 Mohammed Faruq
00304134 - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00309898 PatK-01 PubMed: Shimozawa 2004 - - - Japan - 00y00m10d 0 - - PBD see paper; ...,uneventful pregnancy, typical craniofacial dysmorphia including large open fontanelles, high forehead, flat occiput, low/broad nasal bridge, amicrognathia; neurologic abnormalities, including hypotonia; plasma analysis elevated very long chain fatty acids, di- and trihydroxycholestanoic acid, normal phytanic acid level; erythrocyte plasmalogens undetectable; died at 10d 1 1 Nancy Braverman
00309899 ? PubMed: Huybrechts 2008 - - yes Pakistan - - 0 - - PBD see paper; ...,severe cholestasis, hepatomegaly, neuronal migration defect, progressive hypotonia 1 1 Nancy Braverman
00309900 patient PubMed: Ebberink 2011 - - - - - - 0 - - PBD - 1 1 Johan den Dunnen
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