Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
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Expression of human GLI in mice results in failure to thrive, early death, and patchy Hirschsprung-like gastrointestinal dilatationRecurrence of Pallister-Hall syndrome in two sibs.Pallister-Hall syndrome.Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.Genetic heterogeneity of Meckel syndrome.Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.Pallister-Hall and McKusick-Kaufmann syndromesThe Smith-Lemli-Opitz syndrome.Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.Pallister-Hall syndrome has gone the way of modern medical genetics.Prenatal ultrasound findings in hydrolethalus: continuing difficulties in diagnosis.Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects.Holoprosencephaly-diencephalic hamartoma: Sequence or pleiotropy?
P2860
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P2860
Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年学术文章
@wuu
1992年学术文章
@zh-cn
1992年学术文章
@zh-hans
1992年学术文章
@zh-my
1992年学术文章
@zh-sg
1992年學術文章
@yue
1992年學術文章
@zh
1992年學術文章
@zh-hant
name
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@ast
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@en
type
label
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@ast
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@en
prefLabel
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@ast
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@en
P2093
P356
P1476
Variability versus heterogenei ...... ity (CAVE) multiplex syndrome.
@en
P2093
Gillerot Y
Koulischer L
Langhendries JP
P304
P356
10.1002/AJMG.1320430404
P577
1992-07-01T00:00:00Z