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Chondrodysplasia Punctata

Category: Clinical Genetics Genomics Paediatrics

EBP, ARSL, PEX7, GNPAT, AND AGPS GENE ANALYSIS IN CHONDRODYSPLASIA PUNCTATA Chondrodysplasia punctata can be inherited as an X-linked dominant, X-linked recessive or autosomal recessive disorder. Germline variants in the EBP gene are associated with the X-linked dominant form which shows male lethality. The X-linked recessive form (CDPX1) is characterised by distal phalangeal hypoplasia and […]

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Chondrodysplasia Punctata

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17-hydroxyprogesterone 17-OH progesterone 17-OHP 17α-hydroxyprogesterone 21 hydroxylase 21-OH 24 hour 24 hour urine collection 24 hr 3-methoxytyramine 5-HIAA 5-Hydroxyindoleacetic acid 7-Dehydrocholesterol 7-DHC Aarskog-scott syndrome AAS ABCC6 ABCC8 Academic Department status acid maltase acyclovir ADAMTS13 admab AED AEDs AGPAT2 AGPS AIP Alagille Syndrome ALB Albumin ALP Alpha-galactosidase A deficiency amikacin amino acid Anderson-Fabry aneuploidy anomoly Anti-convulsant Anti-epileptic anti-thyroglobulin antithyroglobulin ARSE AstraZeneca) BANF1 Beckton Dickinson Beta-glucosidase Bilharzia Biotin Blood Sciences BNP Bone bone profile BRAF BSCL2 CA-153 CA125 CA15.3 CA153 CA19-9; CA199; CA-199 CADASIL CALCITONIN cancer carcinoid tumour Carney Complex CASR CAV1 CDC73 CFT CGL chance Chondrodysplasia punctata ciprofloxacin Clotted Blood co-trimoxazole COL4A1 COL4A2 colistin Congenital Generalised Lipodystrophy Congenital Hypothyroidism Coronavirus Covid CRP CT cycloserine daptomycin Deafness DG30 Diabetes diarrhoea discontinued DLL3 DMP1 Down's syndrome download EBP EBV Edward's syndrome EFTUD2 EGFR EIF2AK3 ENPP1 enterobius vermicularis epilepsy epileptic Epstein Barr ESR ESR tubes ETG ethambutol Fabry Faciogenital dysplasia faecal occult blood faeces FAI Familial Hepatic Adenomas Familial Isolated Hyperparathyroidism Familial Isolated Pituitary Adenoma Familial Medullary Thyroid Carcinoma Familial Partial Lipodystrophy Familial Porencephaly Fanconi-Bickel Syndrome FASP Feingold Syndrome fetal FGD1 FGF23 FIPA first trimester screening FIT FIT; qFIT; occult blood flu flucloxacillin flucytosine FOB foetal FOXP3 FPLD free light chains FSLC FTS fβ-hCG GACI GALNT3 ganciclovir Gaucher Disease GCK Generalised Arterial Calcification of Infancy gentamicin GFR Glandular fever Glucose Galactose Malabsorption GLUD1 glycine glycogen storage disease GNPAT GSDII H pylori HADH Haemochromatosis Hajdu-Cheney Syndrome hCG Helicobacter Herpes HES7 HFE HFTC HHRH HLA HLA-B27 HLAB27 HNF1A HNF1B HNF4A homovanillic acid HR HSV Hutchinson-Gilford Progeria syndrome HVA Hyperinsulinism hyperphosphataemic hyperphosphataemic familial tumoral calcinosis Hyperphosphatemic Familial Tumoral Calcinosis Hypophosphatemic rickets Hypophosphatemic rickets with hypercalciuria ICE immunoassay immunosuppressant Infectious mononucleosis influenza influenzae instructions interference IPEX Syndrome Irinotean therapy Irinotecan Toxicity isoniazid itraconazole IVIg JAG1 KCNJ11 KL KRAS Leucocyte (White Blood Cell) Enzymes levels LFNG LFT LFTs LGMD1B Limb girdle muscular dystrophy type 1B linezolid lipid lipids liver function tests LMNA lysosomal storage disease MAD MAD subtype A MAD subtype B MADA MADB Malignant Melanoma Mandibuloacral dysplasia Mandibulofacial dysostosis with microcephaly Maternally Inherited Diabetes and Deafness Maturity-Onset Diabetes of the Young MELAS Syndrome MEN1 MEN2A MEN2B MEN4 MESP2 Metastatic Colorectal Cancer MFDM mitochondrial mutation m.3243A>G MODY Molecular Genetics monospot MPO Multiple Endocrine Neoplasia Multiple Endocrine Neoplasia Type 1 multiple endocrine neoplasia type 2a multiple endocrine neoplasia type 2b Multiple Endocrine Neoplasia Type 4 MYCN mycobacteria nbt NDH Syndrome needle Needlestick Neonatal Diabetes Neonatal Diabetes Mellitus Neonatal Diabetes Mellitus & Cerebellar Agenesis Neonatal Diabetes Mellitus & Congenital Hypothyroidism (NDH Syndrome) Nestor-Guillermo Progeria Syndrome netilmicin neuroblastoma Newsletter NGPS Non-Small Cell Lung Cancer normetanephrine NOTCH2 NOTCH2 exon 34 NOTCH3 NPEx NRAS NSCLC NTproBNP; NT-Pro-BNP Nucleocapsid antigen (anti-N) occult blood PAPP A PAPPA Paraganglioma Patau's syndrome patient PCR penicillin PEX7 PHA2 Phaeochromocytoma Phaeochromocytoma & Paraganglioma PHEX plasma metadrenalines plasma metanephrines plasma mets plasma viscosity PLIN1 Pompe Pompe disease porph porphyria porphyrin porphyrins posaconazole PPARG PR3 Prediction of Irinotecan Toxicity PRKAR1A pro BNP protein Pseudohypoaldosteronism Type 2 Pseudoxanthoma Elasticum PTF1A PTFR PTH PXE qFIT Rapamune Rapamycin RAS RAST RCAD renal Renal Cysts and Diabetes renal function renal profile respiratory Restrictive Dermopathy Results RET rifampicin SARS-CoV SARS-CoV-2 SARS-CoV2 SCD type 1 SCD type 2 SCD type 3 SCD type 4 screening programme self-swab sellotape slide sflc SHBG; FAI sirolimus SL19A2 SLC2A2 SLC34A3 SLC5A1 Spike antigen (anti-S) Spondylocostal dysostosis Staff testing stick stool streptomycin sulphamethoxazole SUR1 SWAG T spot T13 t18 T21 tb TDM teicoplanin Thiamine Responsive Megaloblastic Anaemia thread worms Thyrocalcitonin thyroglobulin antibodies tobramycin Toxicty TRAb TRAbs transplant trimethoprim TRMA Troponin tuberculosis ucpcr UGT1A1 UKAS urine urine hCG urine pH Urine pregnancy test USP vaccines (Pfizer vancomycin vanillyl mandelic acid Varicella Virology Vitamin B7 VMA voriconazole VZV WCE Werner Syndrome White cell enzymes whooping cough WNK4 Wolcott Rallison Syndrome WRN ZMPSTE24 α-glucosidase β-glucosidase deficiency β-hCG