All individuals with variants in gene CXorf59

14 entries on 1 page. Showing entries 1 - 14.
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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
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 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
00332232 FamT115 PubMed: Liu 2021 - M - China - - - - - INFM see paper; ... 1 1 Johan den Dunnen
00332233 FamT176PatII1 PubMed: Liu 2021 - M - China - - - - - INFM see paper; ... 1 1 Johan den Dunnen
00332234 FamH025PatII1 PubMed: Liu 2021 - M - China - - - - - INFM see paper; ... 1 1 Johan den Dunnen
00332235 FamMA2603PatII1 PubMed: Liu 2021 - M - Australia - - - - - INFM see paper; ... 1 1 Johan den Dunnen
00377057 FamEPatII1 PubMed: Waddell 2021 2-generation family, 2 affected brothers M - Australia - - - - - MD muscle weakness, calf hypertrophy, elevated serum CK (18889 U/L), 9y-wheelchair dependent, no cardiac/respiratory involvement; similarly affected brother 1 2 Johan den Dunnen
00377059 FamFPatII6 PubMed: Waddell 2021 2-generation family, 1 affected, 1 carrier female M - Australia - - - - - MD pProximal muscle weakness, positive Gowers sign, calf hypertrophy, elevated serum CK (24000 U/L); 9y-ambulant, toe walking; no cardiac/respiratory involvement; mother muscle pain, elevated serum CK (500 U/L) 1 1 Johan den Dunnen
00411195 Fam1PatIV2 PubMed: Bai 2022 4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant F;M no China - - - - - SMA see paper; ..., spinal muscular atrophy 1 1 Johan den Dunnen
00431390 patient PubMed: Bi 2023 2-generation family, 1 affected, unaffected carrier mother/sister M - China - 00y03m - - - ? see paper; ..., 3m-deceased (fulminant infection); 41w+1 birth Cesarean section macrosomia; 19d neonatal sepsis, soft/flat anterior fontanelle, mild tachypnea, clear air entry, heart rate 145 beats/min, no hepatosplenomegaly, full range motion four limbs, normoactive bowel sound; raised CK level, decreased gp91 expression, positive nitroblue tetrazolium test 1 1 Johan den Dunnen
00431393 Pat2 PubMed: Peng 2007 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - CGD see paper; ..., 4m-seizure-like activity requiring hospitalization, skin infection groin, mpetigo; mild elevation transaminases, hepatosplenomegaly; chronic granulomatous disease 1 1 Johan den Dunnen
00448874 Pat570 Journal: Mori 2024 - M - Japan - - - - - PKD see paper; ... 1 1 Johan den Dunnen
00448875 Pat698 Journal: Mori 2024 - M - Japan - - - - - PKD see paper; ... 1 1 Johan den Dunnen
00448876 Pat1216 Journal: Mori 2024 - M - Japan - - - - - PKD see paper; ... 1 1 Johan den Dunnen
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