المؤلفون: Goodwin, Alice F, Oberoi, Snehlata, Landan, Maya, Charles, Cyril, Massie, Jessica C, Fairley, Cecilia, Rauen, Katherine A, Klein, Ophir D

المصدر: American Journal of Medical Genetics Part A. 164(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Pediatric Research Initiative, Congenital Structural Anomalies, Dental/Oral and Craniofacial Disease, Genetics, Rare Diseases, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Oral and gastrointestinal, Abnormalities, Multiple, Adolescent, Adult, Child, Costello Syndrome, Craniofacial Abnormalities, Dental Enamel Hypoplasia, Ectodermal Dysplasia, Facies, Failure to Thrive, Female, Gingival Hyperplasia, Heart Defects, Congenital, Humans, MAP Kinase Signaling System, Male, Malocclusion, Mitogen-Activated Protein Kinases, Mutation, Phosphatidylinositol 3-Kinases, Proto-Oncogene Proteins p21(ras), Tooth, Tooth Abnormalities, Young Adult, Costello syndrome, CS, craniofacial development, malocclusion, MAPK pathway, occlusion, Ras, RASopathy, receptor tyrosine kinase, signal transduction, tooth development, gingival hyperplasia, enamel, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1qs5q956Test

المؤلفون: Jones, Kyle B, Goodwin, Alice F, Landan, Maya, Seidel, Kerstin, Tran, Dong‐Kha, Hogue, Jacob, Chavez, Miquella, Fete, Mary, Yu, Wenli, Hussein, Tarek, Johnson, Ramsey, Huttner, Kenneth, Jheon, Andrew H, Klein, Ophir D

المصدر: American Journal of Medical Genetics Part A. 161(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Dentistry, Congenital Structural Anomalies, Genetics, Pediatric, Adolescent, Adult, Case-Control Studies, Child, Dermatology, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Hair, Humans, Iontophoresis, Male, Microscopy, Confocal, Phenotype, Pilocarpine, Reproducibility of Results, Surveys and Questionnaires, Sweat Glands, Young Adult, X-linked hypohidrotic ectodermal dysplasia, ectodysplasin, hair, sweat gland, terminal hair, confocal imaging, pilocarpine iontophoresis, phototrichogram, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/66q517jdTest

المؤلفون: Goodwin, Alice F., Oberoi, Snehlata, Landan, Maya, Charles, Cyril, Groth, Jessica, Martinez, Anna, Fairley, Cecilia, Weiss, Lauren A., Tidyman, William E., Klein, Ophir D., Rauen, Katherine A.

المصدر: Clinical genetics, vol 83, iss 6

مصطلحات موضوعية: Male, MAP Kinase Kinase 2, MAP Kinase Kinase 1, Oral and gastrointestinal, Craniofacial Abnormalities, Cohort Studies, Congenital, Ectodermal Dysplasia, 2.1 Biological and endogenous factors, Aetiology, Child, Heart Defects, Pediatric, Genetics & Heredity, Syndrome, craniofacial development, Phenotype, Child, Preschool, Female, Abnormalities, Multiple, signal transduction, Signal Transduction, Heart Defects, Congenital, Proto-Oncogene Proteins B-raf, Adult, Genotype, Adolescent, Clinical Sciences, occlusion, Article, Proto-Oncogene Proteins p21(ras), cardio-facio-cutaneous syndrome, Young Adult, Proto-Oncogene Proteins, Genetics, Humans, Abnormalities, Multiple, Dental/Oral and Craniofacial Disease, Preschool, Tooth Abnormalities, Facies, tooth development, MAPK pathway, malocclusion, Failure to Thrive, stomatognathic diseases, RASopathy, ras Proteins, receptor tyrosine kinase, Congenital Structural Anomalies, Ras

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::38a547b70c0862b0d66be56e04568f3dTest
https://escholarship.org/uc/item/7v2665s1Test