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Dokumenttyp:
journal article 
Autor(en):
Umair, Muhammad; Alhaddad, Bader; Rafique, Afzal; Jan, Abid; Haack, Tobias B; Graf, Elisabeth; Ullah, Asmat; Ahmad, Farooq; Strom, Tim M; Meitinger, Thomas; Ahmad, Wasim 
Titel:
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3. 
Abstract:
BackgroundOsteogenesis imperfecta (OI) is a heritable bone fragility disorder usually caused by dominant variants in COL1A1 or COL1A2 genes. Over the last few years, 17 genes including 12 autosomal recessive and five autosomal dominant forms of OI, involved in various aspects of bone formation, have been identified.MethodsWhole-exome sequencing followed by conventional Sanger sequencing was performed in a single affected individual (IV-3) in a family.ResultsHere, we report the clinical and genet...    »
 
Zeitschriftentitel:
Pediatr Res 
Jahr:
2017 
Band / Volume:
82 
Heft / Issue:
Seitenangaben Beitrag:
753-758 
Sprache:
eng 
Print-ISSN:
0031-3998 
TUM Einrichtung:
Institut für Humangenetik