All individuals with variants in gene PDGFRB

18 entries on 1 page. Showing entries 1 - 18.
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00049844 - PubMed: Johnston 2015, Journal: Johnston 2015 - M no China;Indonesia - >07y 0 - - PENTT see paper; shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, thin calvarium, developmental delay, no hearing loss, posterior fossa cyst, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... 1 1 Johan den Dunnen
00049845 - PubMed: Johnston 2015, Journal: Johnston 2015 distantly related parents F ? Pakistan - >14y 0 - - PENTT see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, no scoliosis, thin calvarium, normal intelligence, no hearing loss, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... 1 1 Johan den Dunnen
00049846 - PubMed: Penttinen 1997, PubMed: Johnston 2015, Journal: Johnston 2015 - M - Finland - >29y 0 - - PENTT see paper; open fontanelles, shallow orbits, narrow nose, underdevloped cheekbones, delayed eruption teeth, microphthalmia, corneal abnormaltiy, , thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers/toes, osteopenia, thin bones, scoliosis, thin calvarium, normal intelligence, bilateral sensorineural hearing loss, mega cisterna magna, hypothyroid, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... 1 1 Johan den Dunnen
00049847 - PubMed: Johnston 2015, Journal: Johnston 2015 adopted child F no China;Viet Nam - >15y 0 - - PENTT see paper; open fontanelles, shallow orbits, underdevloped cheekbones, delayed eruption teeth, thin translucent skin with prominent venous patterning, lipoatrophy, hyperkeratotic lesions, sparse hair, acro-osteolysis, short fingers, contractures fingers, osteopenia, thin bones, wormian bones, normal intelligence, no hearing loss, cortical and cerebellar atrophy, hyperextensible, no overgrowth, no myofibromas, no basal ganglia calcifications, ... 1 1 Johan den Dunnen
00095920 - Journal: Arts 2017 - F ? (Belgium) - - 0 - - IMF-1 see paper; ... 1 1 Florence Arts
00100306 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - 0 - - KOGS see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration 1 1 Johan den Dunnen
00100307 - PubMed: Takenouchi 2015, Journal: Takenouchi 2015 2-generation family, 1 affected, unaffected non-carrier parents F no Japan - - 0 - - KOGS see paper; ..., overgrowth, facial dysmorphism, hyperelastic fragile skin, scoliosis, neurologic deterioration 1 1 Johan den Dunnen
00100309 - Takenouchi, IRDiRC 2017 - - no Japan - - 0 - - KOGS - 1 1 Johan den Dunnen
00100310 - Takenouchi, IRDiRC 2017 - - no Japan - - 0 - - KOGS - 1 1 Johan den Dunnen
00100512 - Journal: Arts 2017 - F - (Belgium) - - 0 - - IMF-1 see paper; ... 3 1 Florence Arts
00100515 - Journal: Arts 2017 - M - (Belgium) - - 0 - - IMF-1 see paper; ... 6 1 Florence Arts
00100520 - Journal: Arts 2017 - M - (Belgium) - - 0 - - IMF-1 see paper; ... 2 1 Florence Arts
00100521 - Journal: Arts 2017 - M - (Belgium) - - 0 - - IMF-1 see paper; ... 3 1 Florence Arts
00100522 - Journal: Arts 2017 - F - (Belgium) - - 0 - - IMF-1 see paper; ... 1 1 Florence Arts
00100524 - Journal: Arts 2017 - F - (Belgium) - - 0 - - IMF-1 see paper; ... 1 1 Florence Arts
00183370 - - - F - - - - 0 - - progeroid syndrome, neonatal (Wiedemann-Rautenstrauch syndrome) acroosteolysis lipodystrophy 1 1 Gunnar Houge
00213548 - PubMed: Li 2011 - - - - - - 0 - - ? - 2 1 Johan den Dunnen
00260944 Pat1 PubMed: Pond 2018 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - responded to imatinib ? see paper; ... 1 1 Johan den Dunnen
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