Literature DB >> 2363438

Distal 12p deletion in a stillborn infant.

A Baroncini1, C Avellini, C Neri, A Forabosco.   

Abstract

A stillborn female with a "de novo" deletion of band 12p13 is described. Her main clinical manifestations are intrauterine growth retardation, unilateral cleft lip, protruding tongue, and small, low set, and posteriorly angulated ears. Comparison of this case with 4 previous reported patients with an isolated distal del(12p) fails to show significant common phenotypic characteristics.

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Year:  1990        PMID: 2363438     DOI: 10.1002/ajmg.1320360324

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


  4 in total

1.  12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

Authors:  Julien Thevenon; Patrick Callier; Joris Andrieux; Bruno Delobel; Albert David; Sylvie Sukno; Delphine Minot; Laure Mosca Anne; Nathalie Marle; Damien Sanlaville; Marlène Bonnet; Alice Masurel-Paulet; Fabienne Levy; Lorraine Gaunt; Sandra Farrell; Cédric Le Caignec; Annick Toutain; Virginie Carmignac; Francine Mugneret; Jill Clayton-Smith; Christel Thauvin-Robinet; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

Review 2.  δ ENaC: a novel divergent amiloride-inhibitable sodium channel.

Authors:  Hong-Long Ji; Run-Zhen Zhao; Zai-Xing Chen; Sreerama Shetty; Steven Idell; Sadis Matalon
Journal:  Am J Physiol Lung Cell Mol Physiol       Date:  2012-09-14       Impact factor: 5.464

3.  12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments.

Authors:  Marcio Leyser; Bruno Leonardo Dias; Ana Luiza Coelho; Marcio Vasconcelos; Osvaldo J M Nascimento
Journal:  Mol Cytogenet       Date:  2016-10-04       Impact factor: 2.009

4.  Proliferative regulation of alveolar epithelial type 2 progenitor cells by human Scnn1d gene.

Authors:  Runzhen Zhao; Gibran Ali; Jianjun Chang; Satoshi Komatsu; Yoshikazu Tsukasaki; Hong-Guang Nie; Yongchang Chang; Mo Zhang; Yang Liu; Krishan Jain; Bock-Gie Jung; Buka Samten; Dianhua Jiang; Jiurong Liang; Mitsuo Ikebe; Michael A Matthay; Hong-Long Ji
Journal:  Theranostics       Date:  2019-10-18       Impact factor: 11.556

  4 in total

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