Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

TY - JOUR

T1 - Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

AU - Chitty, Lyn S.

AU - McCrimmon, Rory

AU - Temple, I. Karen

AU - Russell-Eggitt, Isobel M.

AU - Baraitser, Michael

N1 - M1 - 4 Chitty, L S McCrimmon, R Temple, I K Russell-Eggitt, I M Baraitser, M eng 1991/09/15 Am J Med Genet. 1991 Sep 15;40(4):417-20.

PY - 1991/9/15

Y1 - 1991/9/15

N2 - We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype

AB - We report on an autosomal dominant syndrome comprising partially absent eye muscles, anterior chamber defects, hydrocephalus, skeletal changes, and a specific facial phenotype

U2 - 10.1002/ajmg.1320400407

DO - 10.1002/ajmg.1320400407

M3 - Article

C2 - 1746603

SN - 1552-4833

VL - 40

SP - 417

EP - 420

JO - American Journal of Medical Genetics Part A

JF - American Journal of Medical Genetics Part A

IS - 4

ER -