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Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
Jamsheer, Aleksander; Sowinska-Seidler, Anna; Olech, Ewelina M; Socha, Magdalena; Kozlowski, Kazimierz; Pyrkosz, Antoni; Trzeciak, Tomasz; Materna-Kiryluk, Anna; Latos-Bielenska, Anna.
Affiliation
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Sowinska-Seidler A; NZOZ Center for Medical Genetics GENESIS, Poznan, Poland.
  • Olech EM; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Kozlowski K; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Pyrkosz A; Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Trzeciak T; Department of General and Molecular Biology and Genetics, Medical University of Silesia, Katowice, Poland.
  • Materna-Kiryluk A; Department of Orthopedics and Traumatology, Poznan University of Medical Sciences, Poznan, Poland.
  • Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
J Hum Genet ; 61(5): 457-61, 2016 May.
Article in En | MEDLINE | ID: mdl-26763883
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Craniofacial Abnormalities / Parathyroid Hormone-Related Protein / Dwarfism / Brachydactyly / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Poland
Fulltext
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Craniofacial Abnormalities / Parathyroid Hormone-Related Protein / Dwarfism / Brachydactyly / Heterozygote / Mutation Type of study: Diagnostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2016 Type: Article Affiliation country: Poland