Literature DB >> 7551158

Opsismodysplasia: another case and literature review.

H G Santos1, J M Saraiva.   

Abstract

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Year:  1995        PMID： 7551158

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  7 in total

1.  Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1.

Authors:  Bing Li; Deborah Krakow; Deborah A Nickerson; Michael J Bamshad; Yong Chang; Ralph S Lachman; Alev Yilmaz; Hülya Kayserili; Daniel H Cohn
Journal:  Am J Med Genet A       Date:  2014-06-20       Impact factor: 2.802

Review 2.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

3.  Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Authors:  Céline Huber; Eissa Ali Faqeih; Deborah Bartholdi; Christine Bole-Feysot; Zvi Borochowitz; Denise P Cavalcanti; Amandine Frigo; Patrick Nitschke; Joelle Roume; Heloísa G Santos; Stavit A Shalev; Andrea Superti-Furga; Anne-Lise Delezoide; Martine Le Merrer; Arnold Munnich; Valérie Cormier-Daire
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

4.  Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.

Authors:  Jennifer E Below; Dawn L Earl; Kathryn M Shively; Margaret J McMillin; Joshua D Smith; Emily H Turner; Mark J Stephan; Lihadh I Al-Gazali; Jozef L Hertecant; David Chitayat; Sheila Unger; Daniel H Cohn; Deborah Krakow; James M Swanson; Elaine M Faustman; Jay Shendure; Deborah A Nickerson; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2012-12-27       Impact factor: 11.025

5.  Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.

Authors:  Ansab Khwaja; Shawn E Parnell; Kathryn Ness; Viviana Bompadre; Klane K White
Journal:  Front Pediatr       Date:  2015-06-22       Impact factor: 3.418

6.  Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Authors:  Iman Sabri Abumansour; Radiah Mahmoud Iskandarani; Alaa Edrees; Farrukh Javed; Fadwah Taher; Ghaidaa Farouk Hakeem
Journal:  Clin Case Rep       Date:  2021-05-28

Review 7.  An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.

Authors:  Shruti Bajaj; Purnima Satoskar; Aadhira Nair; Frenny Sheth; Jayesh Sheth; Harsh Sheth
Journal:  BMC Pediatr       Date:  2022-02-03       Impact factor: 2.125
  7 in total

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