Literature DB >> 2614802

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

J Raine1, R M Winter, A Davey, S M Tucker.   

Abstract

We report a neonate, born at term, with microcephaly, a hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, and low set ears, who died at 86 minutes of age. Radiographs showed diffuse sclerosis of the bones.

Entities:  

Mesh：

Year:  1989        PMID： 2614802      PMCID： PMC1015765          DOI： 10.1136/jmg.26.12.786

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  36 in total

1.  Expression of FAM20C in the osteogenesis and odontogenesis of mouse.

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2.  A new lethal sclerosing bone dysplasia.

Authors:  H M Kingston; J S Freeman; C M Hall
Journal:  Skeletal Radiol       Date:  1991       Impact factor: 2.199

3.  Raine syndrome.

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Review 4.  Reversible phosphorylation: a birthday tribute to Herb Tabor.

Authors:  Carolyn A Worby; Jack E Dixon
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5.  Secretory kinase Fam20C tunes endoplasmic reticulum redox state via phosphorylation of Ero1α.

Authors:  Jianchao Zhang; Qinyu Zhu; Xi'e Wang; Jiaojiao Yu; Xinxin Chen; Jifeng Wang; Xi Wang; Junyu Xiao; Chih-Chen Wang; Lei Wang
Journal:  EMBO J       Date:  2018-06-01       Impact factor: 11.598

Review 6.  Secreted protein kinases.

Authors:  Vincent S Tagliabracci; Lorenzo A Pinna; Jack E Dixon
Journal:  Trends Biochem Sci       Date:  2012-12-29       Impact factor: 13.807

7.  Nonlethal Raine Syndrome in a Newborn Boy Caused by a Novel FAM20C Variant.

Authors:  Nazan Eras; Yalcin Celik
Journal:  Mol Syndromol       Date:  2021-03-22

8.  High-Phosphate Diet Improved the Skeletal Development of Fam20c-Deficient Mice.

Authors:  Hua Zhang; Lili Li; Matthew J Kesterke; Yongbo Lu; Chunlin Qin
Journal:  Cells Tissues Organs       Date:  2020-02-26       Impact factor: 2.481

Review 9.  The secretory pathway kinases.

Authors:  Anju Sreelatha; Lisa N Kinch; Vincent S Tagliabracci
Journal:  Biochim Biophys Acta       Date:  2015-04-08

10.  Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

Authors:  M A Simpson; R Hsu; L S Keir; J Hao; G Sivapalan; L M Ernst; E H Zackai; L I Al-Gazali; G Hulskamp; H M Kingston; T E Prescott; A Ion; M A Patton; V Murday; A George; A H Crosby
Journal:  Am J Hum Genet       Date:  2007-09-14       Impact factor: 11.025
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