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

Journal name: Journal of human genetics / Japan Society of Human Genetics 61(5):2016.5

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Material Type: 記事
Title: 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
Author/Editor: Aleksander Jamsheer
Anna Sowinska-Seidler
Ewelina M Olech
Magdalena Socha
Kazimierz Kozlowski
Antoni Pyrkosz
Tomasz Trzeciak
Anna Materna-Kiryluk
Anna Latos-Bielenska
Author Heading: Aleksander Jamsheer
Anna Sowinska-Seidler
Ewelina M Olech
Magdalena Socha
Kazimierz Kozlowski
Antoni Pyrkosz
Tomasz Trzeciak
Anna Materna-Kiryluk
Anna Latos-Bielenska
Periodical title: Journal of human genetics / Japan Society of Human Genetics
No. or year of volume/issue: 61(5):2016.5
Volume: 61
Issue: 5
Pages: 457-461
Publication date of volume/issue (W3CDTF): 2016-05
ISSN (Periodical Title): 1434-5161
Publication (Periodical Title): Tokyo : Springer Nature
Place of Publication (Country Code): JP
Text Language Code: eng
NDLC: ZS16
Target Audience: 一般
Holding library: 国立国会図書館
Call No.: Z54-H248
Data Provider (Database): 国立国会図書館 : 国立国会図書館雑誌記事索引
https://ndlsearch.ndl.go.jp
Bibliographic ID (NDL): 027303625
http://id.ndl.go.jp/bib/027303625
Bibliographic Record Category (NDL): 632