Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
about
Rhythmic tongue movements during sleep: a peculiar parasomnia in Costello syndromeDecreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding proteinGenotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Costello syndrome: two cases with embryonal rhabdomyosarcomaCostello syndrome: natural history and differential diagnosis of cutis laxaCostello syndrome in two Brazilian children.Noonan syndrome: clinical aspects and molecular pathogenesis.Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol.Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanismsFurther delineation of cardiac abnormalities in Costello syndrome.Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.Intestinal malrotation in a child with cardio-facio-cutaneous syndrome.Costello syndrome.Craniofacial and dental malformations in Costello syndrome: A detailed evaluation using multi-detector row computed tomography.The IGF system in a case of Costello syndrome.Severe scoliosis associated with Costello syndrome: a case report.Costello syndrome: report and review.Elastic fiber degeneration in Costello syndrome.Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.Respiratory system involvement in Costello syndrome.Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
P2860
Q28279087-AFF96441-FB74-4047-9B5B-20953D498169Q28344006-509B3A5A-F652-4A35-AEE2-C85913777A9CQ30489944-E6A5B852-2248-49E0-BB9C-D5BBCC10CC0AQ30495357-592B92B8-C4FA-4400-9A82-622C258B80C4Q33674383-89F7FC94-3AA4-482A-8794-277427BFD039Q33680070-6D740071-CFB9-4516-A080-49D9EDDB5461Q33806161-40940AA5-C8E8-49E5-B832-7FDBCA29516DQ34115295-EC63B805-AA18-46A8-A2F6-1FC71337C6F2Q34440570-394BB765-E14A-4AE0-8FC3-C4A966D8F757Q34811131-88178996-8316-4144-A2A5-371AEA7E78C1Q34941203-9AE6CDAD-98C8-4B05-B374-F76E8476226CQ41503705-2391906B-2A43-4B54-B923-32FF6977C149Q41738121-9941EBBC-A593-450D-9A23-2C8258FE04EEQ50739915-44B2919E-B51E-4319-B61D-D10CED5BF47BQ51498448-224AF80D-EDA9-45EA-A096-127706ED9C3FQ51908357-2CA17EB2-D09C-48E6-8DEA-C6209B254351Q51987541-66A58368-BB66-4F45-8275-A9FD8F7C1B43Q52009394-F42AC5E9-6F5F-4AEF-B95A-5F9EFB7ED3AFQ53927194-6AC94FA0-087A-45CD-BDA3-5E3C7CAFD473Q55047108-BA9FD5B1-6CFF-40B1-8896-201BA7808ED9Q55060054-71315140-7AB5-4974-BA7F-7E3E37A48649
P2860
Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh
1993年學術文章
@zh-hant
name
Costello syndrome: further cli ...... etic definition, and nosology.
@en
type
label
Costello syndrome: further cli ...... etic definition, and nosology.
@en
prefLabel
Costello syndrome: further cli ...... etic definition, and nosology.
@en
P2093
P356
P1476
Costello syndrome: further cli ...... etic definition, and nosology.
@en
P2093
Martini-Neri ME
Mastroiacovo P
P304
P356
10.1002/AJMG.1320470210
P577
1993-08-01T00:00:00Z