Titre :
  • Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.
Auteur : Lüdecke, H J ; Schaper, J ; Meinecke, P ; Momeni, P ; Gross, Stephanie ; von Holtum D, D ; Hirche, H ; Abramowicz, Marc ; Albrecht, B ; Apacik, C ; Christen, H J ; Claussen, U ; Devriendt, K ; Fastnacht, E ; Forderer, A ; Friedrich, U ; Goodship, T H ; Greiwe, M ; Hamm, H ; Hennekam, R C ; Hinkel, G K ; Hoeltzenbein, M ; Kayserili, H ; Majewski, F ; Mathieu, M ; McLeod, R ; Midro, A T ; Moog, U ; Nagai, T ; Niikawa, N ; Orstavik, K H ; Plöchl, Elzbieta ; Seitz, C ; Schmidtke, J ; Tranebjaerg, L ; Tsukahara, M ; Wittwer, B ; Zabel, B ; Gillessen-Kaesbach, G. ; Horsthemke, B
Informations sur la publication : American journal of human genetics, 68, 1, (page 81-91)
Statut de publication : Publié, 2001-01
Sujet CREF : Sciences bio-médicales et agricoles
Mots-clés MeSH : Adolescent
Adult
Amino Acid Sequence
Anthropometry
Base Sequence
Body Height
Child
Child, Preschool
Chromosomes, Human, Pair 8 -- genetics
DNA Mutational Analysis
DNA-Binding Proteins -- metabolism
Erythroid-Specific DNA-Binding Factors
Exons -- genetics
Female
Genotype
Humans
Infant
Limb Deformities, Congenital -- genetics
Limb Deformities, Congenital -- pathology
Limb Deformities, Congenital -- physiopathology
Limb Deformities, Congenital -- radiography
Male
Middle Aged
Molecular Sequence Data
Mutation -- genetics
Osteochondrodysplasias -- classification
Osteochondrodysplasias -- genetics
Osteochondrodysplasias -- pathology
Osteochondrodysplasias -- radiography
Pedigree
Phenotype
Polymorphism, Single Nucleotide -- genetics
Syndrome
Transcription Factors -- metabolism
Zinc Fingers -- genetics
Note : Journal Article
Research Support, Non-U.S. Gov't
SCOPUS: ar.j
Langue :
  • Anglais
Identificateurs : urn:issn:0002-9297 
info:doi/10.1086/316926
info:pii/S0002-9297(07)62473-2
info:pmid/11112658
info:pmcid/PMC1234936