Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome
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چکیده
منابع مشابه
Severe Silver-Russell syndrome.
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.
متن کاملCharacterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome.
Silver-Russell syndrome (SRS) is characterised by preand postnatal growth restriction in association with other clinically recognised dysmorphic features such as triangular facies, asymmetry, and fifth finger clinodactyly. Since the major diagnostic features involve reduced growth, it is tempting to postulate that altered expression of a protein within a growth factor cascade may be causative. ...
متن کاملThe genetic aetiology of Silver-Russell syndrome.
Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by intrauterine and/or postnatal growth restriction and typical facies. However, the clinical picture is extremely diverse due to numerous diagnostic features reflecting a heterogeneous genetic disorder. The mode of inheritance is variable with sporadic cases also being described. Maternal uniparental disomy (mUPD) of chromosom...
متن کاملReview article Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions
The main features of Silver-Russell syndrome (SRS) are preand postnatal growth restriction and a characteristic small, triangular face. SRS is also accompanied by other dysmorphic features including fifth finger clinodactyly and skeletal asymmetry. The disorder is clinically and genetically heterogeneous, and various modes of inheritance and abnormalities involving chromosomes 7, 8, 15, 17, and...
متن کاملSilver - Russell syndrome . Part II
Features of the Silver-Russell syndrome (SRS) may overlap with other entities characterized by intrauterine growth restriction, making clinical diagnosis often ambiguous. Numerous scoring systems have been continuously modified, based on anthropometric parameters, dysmorphic features and health issues, including growth and gastrointestinal disturbances. Clinical criteria serve for screening pat...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.1.65