Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.
about
FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG)Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activationRole of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Split hand/split foot deformity and LADD syndrome in a family: overlap between the EEC and LADD syndromes.Case report: Presentation of lacrimo-auriculodento- digital (LADD) syndrome in a young female patient.Lacrimo-auricolo-dento-digital syndrome mimicking primary juvenile Sjögren's syndrome.Mutations in different components of FGF signaling in LADD syndrome.Lacrimo-auriculo-dento-digital syndrome is caused by reduced activity of the fibroblast growth factor 10 (FGF10)-FGF receptor 2 signaling pathway.A Case of Lacrimo-Auriculo-Dento-Digital Syndrome with Multiple Congenitally Missing Teeth.Lacrimo-auriculo-dento-digital syndrome with unilateral inner ear dysplasia and craniocervical osseous abnormalities: case report and review of literature.
P2860
Q24292749-218CD968-FB88-4F23-84F5-F1A9DC830C92Q27649204-E480BD8F-12D9-4EFE-B517-F748BD106328Q33430628-C8CBCBD6-48A0-4681-8CD1-C865334112FAQ33595723-AE87253C-0595-4699-98D6-BE3BC44E21BDQ37623132-330B2F27-07B2-441E-A221-802CEE20C81AQ39386568-BE597AA9-B3D7-4784-B149-E4D33FCED6B8Q39746901-F0F75FFF-CA15-49E2-9B91-DC82343223A5Q39807619-5A28AB3F-E7BF-459F-B5B2-9897C8FA86C1Q40417197-BC23E521-371B-4038-AD62-8D0417ABA510Q45054127-21A3FD5B-06F5-4B43-9B3A-A20B22CCF83A
P2860
Lacrimo-auriculo-dento-digital syndrome: evidence for lower limb involvement and severe congenital renal anomalies.
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@en
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@nl
type
label
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@en
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@nl
prefLabel
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@en
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@nl
P356
P1476
Lacrimo-auriculo-dento-digital ...... re congenital renal anomalies.
@en
P2093
P304
P356
10.1002/AJMG.1320430605
P577
1992-08-01T00:00:00Z