All individuals with variants in gene BMP15

11 entries on 1 page. Showing entries 1 - 11.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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
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
00104566 28585349-FamPat1 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - 0 - - ID born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU) 1 1 Karine Poirier
00172619 - - - F - Russian Federation - - 0 - - ? patients with a normal ovarian response to stimulation 1 1 Jekaterina Shubina
00172620 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172621 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172622 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172623 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172624 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00172625 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00177015 47651 - - M no Switzerland - - 0 - - EE HP:0000666 HP:0002451 HP:0001285 1 1 Anaïs Begemann
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