Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene...
Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Language
English
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Contents
We describe the natural history of the RTSII phenotype in a 7-year-old boy who developed intrauterine and postnatal growth retardation, failure to thrive and persisting diarrhoea. The growth hormone stimulation test identified an isolated growth hormone deficiency. Since infancy, the patient manifested skin lesions characterized by a very mild poik...
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Full title
Atypical Rothmund-Thomson syndrome in a patient with compound Heterozygous Mutations in RECQL4 Gene and phenotypic features in RECQL4 syndromes
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TN_cdi_proquest_miscellaneous_70160756
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_70160756
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ISSN
0340-6199,1432-1076
E-ISSN
1432-1076
DOI
10.1007/s00431-007-0447-6
