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25
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"Heart," malformation of
- ... of the GJA1 gene may also contribute to heart malformations, although the role of such a genetic change ... the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. ...
- ... impaired growth, distinctive facial features, hearing loss, and heart malformations. The mutations that cause Warsaw breakage syndrome severely ...
- ... Males who survive infancy have bone abnormalities and heart, gastrointestinal, and genitourinary malformations. AMER1 gene mutations that cause osteopathia striata with ...
- ... characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. Most of ...
- ... characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. People with ...
- ... characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. The SOS1 ...
- ... characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. The RAF1 ...
- ... 6q24-related transient neonatal diabetes mellitus, such as malformations of the brain, heart, or kidneys. More About This Health Condition bA145L22 ...
- ... capillaries that carry blood to and from the heart. Several dozen mutations in the RASA1 gene have been found to cause capillary malformation-arteriovenous malformation syndrome (CM-AVM), which is a ...
- ... specifically during development of the limbs, skull, and heart. ... usually on the scalp, and malformations of the hands and feet. These mutations lead ...