A Turkish Family with Loeys-dietz Syndrome and a Report of a Homozygous Patient with SMAD3 Pathogenic Variation
Loeys-Dietz syndrome (LDS) is a rare autosomal dominant connective tissue disorder with multisystemic involvement caused by pathogenic genetic variations in the transforming growth factor- β pathway. Here, we report a homozygous case with LDS. A newborn male patient who had congenital diaphragmatic...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2022-01-01
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| Series: | Haseki Tıp Bülteni |
| Subjects: | |
| Online Access: |
http://www.hasekidergisi.com/archives/archive-detail/article-preview/a-turkish-family-with-loeys-dietz-syndrome-and-a-r/50844
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