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

• Aleksander Jamsheer

• Anna Sowinska-Seidler

• Ewelina M Olech

• Magdalena Socha

• Kazimierz Kozlowski

• Antoni Pyrkosz

• Tomasz Trzeciak

• Anna Materna-Kiryluk

• Anna Latos-Bielenska

収録刊行物

• Journal of human genetics / Japan Society of Human Genetics

  Journal of human genetics / Japan Society of Human Genetics 61 (5), 457-461, 2016-05

  Tokyo : Springer Nature

詳細情報

• CRID: 1521699229985094912
• NII論文ID: 40020825316
• NII書誌ID: AA11206160
• ISSN: 14345161
• NDL書誌ID: 027303625
• Web Site: https://ndlsearch.ndl.go.jp/books/R000000004-I027303625
• Web Site: https://search.jamas.or.jp/link/ui/2017020906
• 本文言語コード: en
• NDL 雑誌分類:
  • ZS16(科学技術--医学--人類遺伝学)
• データソース種別:
  • NDL
  • CiNii Articles