TY - JOUR
T1 - The clinical spectrum of albinism in humans
AU - Oetting, William S
AU - Brilliant, Murray H.
AU - King, Richard A.
PY - 1996/8
Y1 - 1996/8
N2 - Oculocutaneous albinism is characterized by a congenital reduction or absence of melanin pigment in the skin, hair and eyes. The reduction in the hair and skin results in a change in color but no change in the development or function of these tissues, while the absence of melanin pigment in the eye leads to abnormal development and function. Of particular interest are mutations that are associated with a slow accumulation of pigment in the hair and eyes over time, while retaining the ocular defects of albinism. Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system.
AB - Oculocutaneous albinism is characterized by a congenital reduction or absence of melanin pigment in the skin, hair and eyes. The reduction in the hair and skin results in a change in color but no change in the development or function of these tissues, while the absence of melanin pigment in the eye leads to abnormal development and function. Of particular interest are mutations that are associated with a slow accumulation of pigment in the hair and eyes over time, while retaining the ocular defects of albinism. Analysis of these mutations might provide the insight that we need to understand the interaction between the pigment system and the development of the optic system.
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U2 - 10.1016/1357-4310(96)81798-9
DO - 10.1016/1357-4310(96)81798-9
M3 - Review article
C2 - 8796918
AN - SCOPUS:0030209970
VL - 2
SP - 330
EP - 335
JO - Trends in Molecular Medicine
JF - Trends in Molecular Medicine
SN - 1471-4914
IS - 8
ER -