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Pre- and post-natal growth in two sisters with 3-M syndrome.
- Source :
-
European Journal of Medical Genetics . Apr2016, Vol. 59 Issue 4, p232-236. 5p. - Publication Year :
- 2016
-
Abstract
- 3-M syndrome (OMIM # 273750 ) is a rare autosomal recessive growth disorder characterized by severe pre- and post-natal growth restriction, associated with minor skeletal abnormalities and dysmorphisms. Although the 3-M syndrome is well known as a primordial dwarfism, descriptions of the prenatal growth are missing. We report a family with variable phenotypic features of 3-M syndrome and we describe the prenatal and postnatal growth pattern of two affected sisters with a novel homozygous CUL7 mutation (c.3173-1G>C), showing a pre- and post-natal growth deficiency and a normal cranial circumference. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17697212
- Volume :
- 59
- Issue :
- 4
- Database :
- Academic Search Index
- Journal :
- European Journal of Medical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 113895624
- Full Text :
- https://doi.org/10.1016/j.ejmg.2016.01.009