An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings.
Patton, M A
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. [electronic resource] - Journal of medical genetics Feb 1987 - 118-22 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.24.2.118 doi
Cerebellar Ataxia--complications
Child, Preschool
Dihydroxyphenylalanine--metabolism
Humans
Intellectual Disability--complications
Male
Monophenol Monooxygenase--metabolism
Myopia--complications
Pigmentation Disorders--complications
Skin--metabolism
Syndrome
An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. [electronic resource] - Journal of medical genetics Feb 1987 - 118-22 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0022-2593
10.1136/jmg.24.2.118 doi
Cerebellar Ataxia--complications
Child, Preschool
Dihydroxyphenylalanine--metabolism
Humans
Intellectual Disability--complications
Male
Monophenol Monooxygenase--metabolism
Myopia--complications
Pigmentation Disorders--complications
Skin--metabolism
Syndrome