Isolated Osteopoikilosis
Clinical Features
Phenotypes and symptoms related to Isolated Osteopoikilosis
- Short stature
- Microcephaly
- Skeletal dysplasia
- Subcutaneous nodule
- Ectopic kidney
- Generalized osteosclerosis
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Doctors, researchs, and experts related to Isolated Osteopoikilosis extracted from public data.
Isolated Osteopoikilosis Experts map
Current Researchs and researchers
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Clinical expert - Investigator of research project - Manager of registry - Coordinator of research networkBRUSSELS — Pr Olivier DEVUYST
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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Clinical expert - Investigator of research project - Manager of registry - Coordinator of research networkBRUXELLES — Pr Olivier DEVUYST
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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Clinical expert - Investigator of research project - Manager of registry - Coordinator of research networkLAUSANNE — Pr Olivier DEVUYST
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
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Clinical expert - Investigator of research project - Manager of registry - Coordinator of research networkZÜRICH — Pr Olivier DEVUYST
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Institution/s:
— Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
— Université Catholique de Louvain - UCL
— Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
— Universität Zürich -
Research area/topic::
EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models
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Institution/s:
Isolated Osteopoikilosis Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
LEMD3
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
You can get up to 20 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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