Literature DB >> 22106050

Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C.

Masaki Takagi1, Saori Kaneko-Schmitt, Nobuhiro Suzumori, Gen Nishimura, Tomonobu Hasegawa.   

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Year:  2011        PMID： 22106050     DOI： 10.1002/ajmg.a.34358

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  4 in total

1.  Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Authors:  Michael M Weinstein; Taekyu Kang; Ralph S Lachman; Michael Bamshad; Deborah A Nickerson; Deborah Krakow; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2016-08-17       Impact factor: 2.802

Review 2.  Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Authors:  Laura M McDonell; Kristin D Kernohan; Kym M Boycott; Sarah L Sawyer
Journal:  Hum Mol Genet       Date:  2015-07-07       Impact factor: 6.150

3.  Novel Physique Index for the Screening of Skeletal Dysplasia at Birth.

Authors:  Ryoji Aoki; Nobuhiko Nagano; Aya Okahashi; Shoko Ohashi; Yoshinori Fujinaka; Itsuro Takigawa; Ken Masunaga; Ichiro Morioka
Journal:  Children (Basel)       Date:  2021-04-25

4.  Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass.

Authors:  Mari Muurinen; Fulya Taylan; Symeon Tournis; Jesper Eisfeldt; Alexia Balanika; Heleni Vastardis; Sirpa Ala-Mello; Outi Mäkitie; Alice Costantini
Journal:  JBMR Plus       Date:  2022-07-05
  4 in total

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