The Cornelia de Lange Syndrome
J Pediatr 63:1000-1020, Ptacek,L.J., 1963
A Middle-aged Woman with Severe Scoliosis and Encephalopathy
JAMA Neurol 78:251-252, Mohan, G.,et al, 2021
Neuroimaging Changes in Menkes Disease, Part 1
AJNR 38:1850-1857, Manara, R.,et al, 2017
Extraintestinal Manifestations of Coeliac Disease
Nat Rev Gastroenterol Hepatol 12:561-571, Leffler, D.A.,et al, 2015
Arginase Deficiency Presenting as Cerebral Palsy
Pediatrics 91:995-996, Scheuerle,A.E.,et al, 1993
Cockayne Syndrome: Review of 140 Cases
Am J Med Genet 42:68-84, Nance,M.A. &Berry,S.A., 1992
A Syndrome of Progressive Muscle Spasm, Alopecia, & Diarrhea
Neurol 28:458, Satoyoshi,E., 1978
Germinoma of third Ventricle (Case Record of MGH)
NEJM 293:653, Locke,S.,et al, 1975