Bonthron, D T

Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). [electronic resource] - Journal of medical genetics Mar 1993 - 255-6 p. digital

Publication Type: Case Reports; Journal Article

0022-2593

10.1136/jmg.30.3.255 doi


Abnormalities, Multiple--genetics
Blepharophimosis--genetics
Consanguinity
Facial Bones--abnormalities
Female
Heart Defects, Congenital--genetics
Humans
Hypothyroidism--genetics
Infant, Newborn
Intellectual Disability--genetics
Ribs--abnormalities
Syndrome