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Clinical report A 48-year-old man (see family pedigree, Fig. 1) was referred for genetic testing because of a family history of Loeys Dietz syndrome. His maternal cousin had previously required… Click to show full abstract
Clinical report A 48-year-old man (see family pedigree, Fig. 1) was referred for genetic testing because of a family history of Loeys Dietz syndrome. His maternal cousin had previously required surgery for dilated aortic root and was found to have a heterozygous nonsense mutation in exon 6 of TGFBR2, c.1489C>T p.(Arg497X). Cascade screening in the family showed that his 68-year-old maternal aunt and his 73-year-old mother were also affected. Both individuals were asymptomatic at the time of diagnosis.
Keywords:
loeys dietz;
extreme phenotypes;
year old;
phenotypes loeys;
dietz syndrome
Journal Title: Clinical dysmorphology
Year Published: 2017
Link to full text (if available)
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Journal Title: Clinical dysmorphology
Year Published: 2017
Link to full text (if available)
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recommendations!