Literature DB >> 8030673

Tetra-amelia, lung hypo-/aplasia, cleft lip-palate, and heart defect: a new syndrome?

S Başaran1, A Yüksel, H Ermiş, F Kuseyri, M Ağan, M Yüksel-Apak.   

Abstract

We report on a family with two sons affected with tetra-amelia, cleft lip-palate, bilateral agenesis of lungs, and heart defects. These two cases support the previous suggestions that this complex entity may indeed represent a new syndrome. However, the mode of inheritance is still not clarified.

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Year:  1994        PMID： 8030673     DOI： 10.1002/ajmg.1320510116

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

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2.  Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.

Authors:  M Ragavan; Sarweswar Reddy; Chandramohan Kumar
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4.  RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6.

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Journal:  Nature       Date:  2018-05-16       Impact factor: 49.962

5.  Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

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Journal:  Am J Hum Genet       Date:  2004-02-05       Impact factor: 11.025

6.  Asymmetrical tetraphocomelia with radiohumeral synostosis.

Authors:  Aderibigbe M Shonubi; Olutola Akiode; Babatunde A Salami; Adewale A Musa; Sikirat A Sotimehin; Ganiyu A Sule
Journal:  Ann Saudi Med       Date:  2006 Jul-Aug       Impact factor: 1.526

7.  R-spondin2 signaling is required for oocyte-driven intercellular communication and follicular growth.

Authors:  Marie-Cécile De Cian; Elodie P Gregoire; Morgane Le Rolle; Simon Lachambre; Magali Mondin; Sheila Bell; Céline J Guigon; Anne-Amandine Chassot; Marie-Christine Chaboissier
Journal:  Cell Death Differ       Date:  2020-04-27       Impact factor: 15.828

8.  A 50-kb deletion disrupting the RSPO2 gene is associated with tetradysmelia in Holstein Friesian cattle.

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  8 in total

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