Literature DB >> 11727212

[Familial Pitt-Rogers-Danks: two new cases].

J C Cabrera López1, M Marti Herrero, M Fernández Burriel, L Toledo, R de Andrés-Cofiño, M A Orera.   

Abstract

INTRODUCTION AND CLINICAL CASES: The Pitt Rogers Danks syndrome is characterized by prenatal and postnatal retardation of growth, mental retardation, microcephaly, convulsions and a peculiar facies. It is believed to represent a clinical variant of the Wolf Hirschhorn syndrome, since there is a deletion in the 4p16.3 region in both syndromes. We report two cases in the same family caused by maternal mal segregation of a 4:8 balanced translocation. We describe the clinical characteristics, investigations done and a review of the literature.

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Year:  2001        PMID: 11727212

Source DB:  PubMed          Journal:  Rev Neurol        ISSN: 0210-0010            Impact factor:   0.870


  1 in total

1.  Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

Authors:  Milad Ebrahimi; Mahdieh Behnam; Nafiseh Behranvand-Jazi; Ladan Yari; Sajad Sheikh-Kanlomilan; Mansoor Salehi; Pardis Tahmasebi; Mohaddeseh Amini; Mohaddeseh Behjati; Nafisehsadat Hosseini
Journal:  J Res Med Sci       Date:  2017-08-16       Impact factor: 1.852

  1 in total

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