共 47 条
[5]
Search for genes involved in Joubert syndrome:: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
2002, 107 (03)
:190-196
[6]
JOUBERT SYNDROME - EPISODIC HYPERPNEA, ABNORMAL EYE-MOVEMENTS, RETARDATION AND ATAXIA, ASSOCIATED WITH DYSPLASIA OF CEREBELLAR VERMIS
[J].
NEUROPADIATRIE,
1977, 8 (01)
:57-66
[7]
A NEW SYNDROME WITH FEATURES OF THE SMITH-LEMLI-OPITZ AND MECKEL-GRUBER SYNDROMES IN A SIBSHIP WITH CEREBELLAR DEFECTS
[J].
AMERICAN JOURNAL OF MEDICAL GENETICS,
1987, 26 (02)
:321-336
[10]
Dahlstrom JE, 2000, PATHOLOGY, V32, P283