Sequence variants in GDF5 and TRPS1 underlie brachydactyly and tricho‐rhino‐phalangeal syndrome type III

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Veröffentlicht in:	Pediatrics international 2018-03, Vol.60 (3), p.304-306
Hauptverfasser:	Ullah, Asmat, Umair, Muhammad, Hussain, Shabir, Jan, Abid, Ahmad, Wasim
Format:	Artikel
Sprache:	eng
Schlagworte:	Brachydactyly Brachydactyly - diagnosis Brachydactyly - genetics DNA-Binding Proteins - genetics Facies Female Fingers - abnormalities Foot Deformities, Congenital - diagnosis Foot Deformities, Congenital - genetics frameshift and missense variant Frameshift Mutation GDF5 Genetic Markers Growth differentiation factor 5 Growth Differentiation Factor 5 - genetics Hair Diseases - diagnosis Hair Diseases - genetics Hand Deformities, Congenital - diagnosis Hand Deformities, Congenital - genetics Heterozygote Humans Male Mutation, Missense Nose - abnormalities Pediatrics Pedigree Repressor Proteins Toes - abnormalities Transcription Factors - genetics tricho‐rhino‐phalangeal syndrome type III TRPS1
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