Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
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MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromesCOLEC10 is mutated in 3MC patients and regulates early craniofacial development.Michels syndrome: the first case report from India and review of literatureDisease-causing mutations in genes of the complement system.Zebrafish models of orofacial clefts.Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.Stenting of the obstructed ductus venosus as emergency and bridging strategy in a very low birth weight infant with infradiaphragmatic total anomalous pulmonary venous connection.Analysis of Factor D Isoforms in Malpuech-Michels-Mingarelli-Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement.Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.The nosology of Richieri-Costa/Guion-Almeida syndrome(s)
P2860
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P2860
Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?
description
2005 nî lūn-bûn
@nan
2005 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@ast
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@en
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@nl
type
label
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@ast
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@en
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@nl
prefLabel
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@ast
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@en
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@nl
P2093
P356
P1476
Michels syndrome, Carnevale sy ...... ingle disorder (3MC syndrome)?
@en
P2093
Clarisse Baumann
Luigi Titomanlio
Olivier Dupuy
Selim Bennaceur
P356
10.1002/AJMG.A.30878
P407
P577
2005-09-01T00:00:00Z