ライフサイエンスコーパス: dysostosis

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1 rtebral abnormalities such as spondylocostal dysostosis.

2 is-van Creveld syndrome or Weyers acrodental dysostosis.

3 Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by di

4 usly reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontona

5 enotype, one in a man with Weyers acrodental dysostosis and another in a father and his daughter, who

6 diseases: Alagille syndrome, spondylocostal dysostosis, and cerebral autosomal dominant arteriopathy

7 including Alagille syndrome, spondylocostal dysostosis, and possibly, osteosarcoma.

8 s exhibit varying degrees of mandibulofacial dysostosis, and two additionally have limb anomalies.

9 We suggest that EvC and Weyers acrodental dysostosis are allelic conditions.

10 yndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft asso

11 mation syndrome that we define as acrofacial dysostosis, Cincinnati type.

12 llis-van Creveld syndrome, Weyers acrofacial dysostosis, cranioectodermal dysplasia, and oral-facial-

13 the most common of the human mandibulofacial dysostosis disorders.

14 on family with features of Weyers acrofacial dysostosis, in which the proband has a more severe pheno

15 Weyers acrofacial dysostosis is an autosomal dominant condition with denta

16 raise the possibility that Weyers acrofacial dysostosis is the heterozygous expression of a mutation

17 Weyers acrodental dysostosis (MIM 193530), an autosomal dominant disorder

18 gs (i.e., a male with characteristic facies, dysostosis multiplex, and mental retardation) and bioche

19 ate (DS), progressive neurodegeneration, and dysostosis multiplex.

20 human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx

21 In spondylocostal dysostosis (SD), vertebral-segmentation defects are asso

22 Spondylocostal dysostosis (SD, MIM 277300) is a group of vertebral mals

23 Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (J

24 ler (Genee-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750).

25 es, e.g., Nager syndrome and mandibulofacial dysostosis type Guion-Almeida.

26 use skeletal abnormalities in spondylocostal dysostosis, which is consistent with a critical role for

27 ndividuals with the syndrome mandibulofacial dysostosis with alopecia (MFDA) who have de novo missens

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