Thanatophoricus törpeség

Betegség megnevezésének szinonímái:

• Thanatophoric dwarfism
• Thanatophoric dysplasia

BNO:

• Q7710

Alapadatok:

• Férfi: 5 hónapos korig
• Nő: 5 hónapos korig

Gyógyszeres terápia:

• Thanatophoricus törpeség

Kapcsolódó oldalak (automatikus legyűjtés eredménye):

• Magyar
  • Lege Artis Medicinae

• Angol
  • National Library of Medicine - Medical Subject Headings
  • OMIM: 187600
  • 134934
  • Constitutive activation of MEK1 in chondrocytes causes Stat1 ...
  • Int
  • Korean Journal of Radiology
  • CASE REPORT
  • FGFR3 - fibroblast growth factor receptor 3 (achondroplasia ...
  • 166210
  • [CrossRef]
  • Thanatophoric Dysplasia
  • RGD
  • RGD
  • 187601
  • Meconium Aspiration [C16.614.580]
  • thanatophoric dwarfism
  • FGFR3 - Wikipedia, the free encyclopedia
  • thanatophoric dysplasia
  • Pathology 6020 - Musculoskeletal Pathology - Case 9 - Part 4
  • Comprehensive Case Materials
  • dwarfisms - Human pathology
  • Thanatophoric Dysplasia
  • eric paper
  • genome-www4.stanford.edu
  • osteochondrodysplasias
  • Toxoplasmosis, Congenital [C16.614.909]
  • National Library of Medicine - Medical Subject Headings
  • 269250
  • OriGene - NM_000142 cDNA Clone - Homo sapiens fibroblast growth factor ...
  • Cockayne Syndrome [C05.116.099.343.250]
  • GM08855
  • Dysplazja ?miertelna - Wikipedia, wolna encyklopedia
  • 273680
  • achondroplasia
  • ?
  • [CrossRef]
  • Hyperostosis, Cortical, Congenital [C05.116.099.708.479]
  • GM10749
  • Ophthalmia Neonatorum [C16.614.677]
  • Achondroplasia [C05.116.099.343.110]
  • Proteus Syndrome [C05.660.585.620]
  • RGD:2289863
  • Orphanet: Search a disease
  • ANGIS/Omim Database Queries
  • Genetics | GWUMC
  • Bones
  • Cystic Fibrosis [C16.614.213]
  • Ellis-Van Creveld Syndrome [C05.116.099.708.327]
  • Mobius Syndrome [C16.614.595]
  • Poikiloderma Congenitale [C16.614.739]
  • Ultrasound Findings
  • UCHSC DNA Diagnostic Laboratory-FGFR3 Testing
  • [CrossRef]
  • Persistent Fetal Circulation Syndrome [C16.614.694]
  • Dwarfism
  • Dwarfism [C05.116.099.343]
  • Dwarfism, Pituitary [C05.116.099.343.445]
  • Next Page
  • Severe Combined Immunodeficiency [C16.614.815]
  • Syphilis, Congenital [C16.614.868]
  • Wolman Disease [C16.614.947]
  • micromelic dwarfism
  • McGraw-Hill Professional Books
  • Short Rib-Polydactyly Syndrome [C05.116.099.708.857]
  • MGI_4.01: Human Disease and Mouse Model Detail
  • Cretinism [C05.116.099.343.314]
  • CD
  • Osteogenesis Imperfecta [C05.116.099.708.685]
  • [CrossRef]
  • OMIM entry 187600
  • GM01422
  • Enchondromatosis [C05.116.099.708.338]
  • Epilepsy, Benign Neonatal [C16.614.258]
  • Hydrophthalmos [C16.614.438]
  • Acquired Hyperostosis Syndrome [C05.116.099.708.800]
  • Cleidocranial Dysplasia [C05.116.099.708.207]
  • Osteochondrodysplasias [C05.116.099.708]
  • Sclerema Neonatorum [C16.614.810]
  • The Health Library ? Genetics and Birth Defects
  • Limb Deformities, Congenital [C05.660.585]
  • Amniotic Band Syndrome [C16.614.042]
  • Hernia, Umbilical [C16.614.390]
  • Nystagmus, Congenital [C16.614.643]
  • Achondroplasia
  • 151210
  • ORF Clone of Homo sapiens fibroblast growth factor receptor 3 (achondroplasia...
  • ORF Clone of Homo sapiens fibroblast growth factor receptor 3 (achondroplasia...
  • Neonatal Abstinence Syndrome [C16.614.610]
  • INFANT, NEWBORN, DISEASES
  • Infant, Newborn, Diseases [C16.614]
  • Langer-Giedion Syndrome [C05.116.099.708.582]
  • Ectromelia [C05.660.585.350]
  • Homo sapiens fibroblast growth factor receptor 3 (achondroplasia, thanatophor...
  • Diaphyseal Dysplasia, Progressive [C05.116.099.708.281]
  • Parental demographic risk factors and occupational exposure to ...
  • Hyperostosis Frontalis Interna [C05.116.099.708.486]
  • hypochondroplasia
  • Lower Extremity Deformities, Congenital [C16.131.621.585.512]
  • Upper Extremity Deformities, Congenital [C16.131.621.585.988]
  • Asphyxia Neonatorum [C16.614.092]
  • Arq. Neuro-Psiquiatr. vol.60 no.1; Abstract: S0004-282X2002000100024
  • FGFR3
  • Genetics Image Catalogue
  • References
  • Hemorrhagic Disease of Newborn [C16.614.378]
  • 200600
  • Foot Deformities, Congenital [C16.131.621.585.380]
  • [Medline]
  • Genetikai betegségek listája - Wikipédia
  • Hand Deformities, Congenital [C16.131.621.585.425]
  • FGFR3: fibroblast growth factor receptor 3 (achondroplasia ...
  • [CrossRef]
  • Tg(Col2a1-cre)1Bhr
  • [CrossRef]
  • Fgfr3
  • OMIM entry 187601
  • Gene Reviews
  • Abstract
  • [CrossRef]
  • Related Condition(s)
  • [Medline]
  • Radiology case 48--1513
  • Similar articles in PubMed
  • Search for Related Content
  • Kromozom 4 - Vikipedi
  • Download the dissertation
  • Gene Tests
  • HuSH 29mer shRNA Constructs against FGFR3
  • J:63198
  • medschool.umaryland.edu
  • som1.umaryland.edu

• Finn
  • Tanatoforinen kehityshäiriö - Kehitysvammahuollon tietopankki