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Literature DB >> 5807657

Frontometaphyseal dysplasia. A new syndrome.

R J Gorlin, M M Cohen.

Abstract

Entities: Disease

Mesh：

Year: 1969 PMID： 5807657 DOI： 10.1001/archpedi.1969.02100040489014

Source DB: PubMed Journal: Am J Dis Child ISSN： 0002-922X

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Cited

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12 in total

1. Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?

Authors: W Reardon; C M Hall; M J Dillon; M Baraitser
Journal: J Med Genet Date: 1991-09 Impact factor: 6.318

2. Radiographic findings in Shprintzen-Goldberg syndrome.

Authors: G Nishimura; T Nagai
Journal: Pediatr Radiol Date: 1996-11

3. Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child.

Authors: Bhushan Shah; Suman Sahu; Piyush Kalakoti; Sankalp Yadav; M M Aarif Syed; Venugopal Brijmohan Bhattad; Meena Shaikh
Journal: Australas Med J Date: 2014-02-28

4. Mutations responsible for Larsen syndrome cluster in the FLNB protein.

Authors: D Zhang; J A Herring; S S Swaney; T B McClendon; X Gao; R H Browne; K E Rathjen; C E Johnston; S Harris; N M Cain; C A Wise
Journal: J Med Genet Date: 2006-05 Impact factor: 6.318

Review 5. Craniotubular bone disorders.

Authors: R J Gorlin
Journal: Pediatr Radiol Date: 1994

Review 6. The Erlenmeyer flask bone deformity in the skeletal dysplasias.

Authors: Maha A Faden; Deborah Krakow; Fatih Ezgu; David L Rimoin; Ralph S Lachman
Journal: Am J Med Genet A Date: 2009-06 Impact factor: 2.802

7. A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

Authors: Melissa Lah; Tejasvi Niranjan; Sujata Srikanth; Lynda Holloway; Charles E Schwartz; Tao Wang; David D Weaver
Journal: Am J Med Genet A Date: 2016-01-24 Impact factor: 2.802