Results 1 -
10
of
11
for
melanonychia OR nail hyperpigmentation OR normal variant
- ... absence of hair from birth (congenital alopecia), and nail abnormalities. The ... than normal, allowing more molecules to pass through them. Researchers ...
- ... type II. More About This Health Condition A normal variant (polymorphism) in the CYB5R3 gene has been associated ...
- ... activity of certain genes that are essential for normal development. Variants (also called mutations) in the RAD21 gene have ... ability to regulate genes that are critical for normal development. ... condition.Studies suggest that variants in the RAD21 gene cause a form of ...
- ... do not cause illness in people with a normal immune system. The IKBKG gene variants associated with X-linked susceptibility to mycobacterial disease ...
- ... Hedgehog signaling in the developing embryo, disrupting the normal formation and growth of the teeth, nails, and bones. More About This Health Condition DWF- ...
- ... Hedgehog signaling in the developing embryo, disrupting the normal formation and growth of the teeth, nails, and bones. More About This Health Condition Ellis ...
- ... cause Witkop syndrome (also known as tooth-and-nail syndrome). This rare condition is characterized by missing teeth and abnormalities of the fingernails and toenails. The MSX1 gene variant mutation responsible for Witkop syndrome leads to the ...
- ... airway. Other features of LOC syndrome include malformed nails and abnormal teeth.The mutations involved in LOC syndrome lead to an abnormally short version of the alpha-3a subunit of laminin 332; alpha-3b1 and alpha-3b2 are normal. Laminin proteins containing the altered alpha subunit cannot ...
- ... cause a condition called beta-plus (β+) thalassemia. Variants that prevent cells from producing any beta-globin cause beta-zero (β0) thalassemia.Low levels of beta-globin can impact the production of hemoglobin. A lack of hemoglobin disrupts the normal development of red blood cells. A shortage of ...
- ... that this condition may be a mild form (variant) of pachyonychia congenita ... although mild nail and dental abnormalities are possible.The KRT17 gene ...