Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition.
about
Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and reviewHydrocephalus, agyria, pseudoencephalocele, retinal dysplasia, and anterior chamber anomalies.Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibsWalker-Warburg syndrome (Warburg syndrome, HARD +/- E syndrome)Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblastThe electroretinogram.A diagnostic survey of infants referred for chromosome analysis in the neonatal period.
P2860
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P2860
Hydrocephalus, agyria, retinal dysplasia, encephalocele (HARD +/- E) syndrome: an autosomal recessive condition.
description
1978 nî lūn-bûn
@nan
1978年の論文
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1978年論文
@yue
1978年論文
@zh-hant
1978年論文
@zh-hk
1978年論文
@zh-mo
1978年論文
@zh-tw
1978年论文
@wuu
1978年论文
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1978年论文
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name
Hydrocephalus, agyria, retinal ...... autosomal recessive condition.
@en
type
label
Hydrocephalus, agyria, retinal ...... autosomal recessive condition.
@en
prefLabel
Hydrocephalus, agyria, retinal ...... autosomal recessive condition.
@en
P2093
P1476
Hydrocephalus, agyria, retinal ...... autosomal recessive condition.
@en
P2093
Chandler JW
Clarren SK
P304
P577
1978-01-01T00:00:00Z