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TGFBR2
- Uterine Rupture
- Shprintzen-Goldberg Syndrome
- Abdominal Aortic Aneurysm
- Aneurysm
- Loeys-Dietz Syndrome
TGFBR1
- Uterine Rupture
- Alopecia, Androgenetic, 1
- Shprintzen-Goldberg Syndrome
- Abdominal Aortic Aneurysm
- Loeys-Dietz Syndrome
ABHD5
- Cerebral Creatine Deficiency
TTR
- Cerebral Creatine Deficiency
- Hereditary Transthyretin Amyloidosis
- Fabry Disease
GAMT
- Guanidinoacetate Methyltransferase Deficiency
GLA
- Fabry Disease
PORCN
- Focal Dermal Hypoplasia
SALL4
- Duane-Radial Ray Syndrome
TGFB2
- Abdominal Aortic Aneurysm
- Loeys-Dietz Syndrome
FBN1
- Shprintzen-Goldberg Syndrome
- Hereditary Transthyretin Amyloidosis
- Abdominal Aortic Aneurysm
- Aneurysm
- Loeys-Dietz Syndrome
COL3A1
- Uterine Rupture
- Abdominal Aortic Aneurysm
- Aneurysm
- Loeys-Dietz Syndrome
CREBBP
- Abdominal Aortic Aneurysm
- Rubinstein-Taybi Syndrome
SMAD3
- Abdominal Aortic Aneurysm
- Aneurysm
- Loeys-Dietz Syndrome
WNT5A
- Ror2-Related Robinow Syndrome
TTN
- Salih Myopathy
- Arrhythmogenic Right Ventricular Cardiomyopathy
SKI
- Shprintzen-Goldberg Syndrome
TEK
- Multiple Cutaneous And Mucosal Venous Malformations
ENPP1
- Generalized Arterial Calcification Of Infancy
COL4A3
- Alport Syndrome
COL4A5
- Alport Syndrome