Literature DB >> 20635354

Giuffrè-Tsukahara syndrome: Evidence for X-linked dominant inheritance and review.

Ashwin B Dalal1, Anujit Sarkar, T Padma Priya, Madhusudan R Nandineni.   

Abstract

We report on a girl with Giuffrè-Tsukahara syndrome manifesting microcephaly, mental retardation, radio-ulnar synostosis, short stature and scoliosis. Skewed X-inactivation was not observed in our patient. We reviewed previous reports and provide evidence in support of X-linked dominant inheritance of this condition.

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Year:  2010        PMID： 20635354     DOI： 10.1002/ajmg.a.33505

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


  3 in total

1.  Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect.

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Journal:  J Clin Immunol       Date:  2019-07-23       Impact factor: 8.317

Review 2.  Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.

Authors:  Dhanya Lakshmi Narayanan; Purvi Majethia; Aroor Shrikiran; Shahyan Siddiqui; Ashwin Dalal; Anju Shukla
Journal:  Eur J Med Genet       Date:  2021-12-04       Impact factor: 2.708

3.  Educational Case: Rickets.

Authors:  Jonathan Light; Michele Retrouvey; Laurie L Wellman; Richard M Conran
Journal:  Acad Pathol       Date:  2022-09-23
  3 in total

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