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6 in total

1. Dealing with congenital hepatic fibrosis? Remember COACH syndrome.

Authors: B C Acharyya; M K Goenka; S Chatterjee; U Goenka
Journal: Clin J Gastroenterol Date: 2013-12-11

2. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Authors: Francesco Brancati; Miriam Iannicelli; Lorena Travaglini; Annalisa Mazzotta; Enrico Bertini; Eugen Boltshauser; Stefano D'Arrigo; Francesco Emma; Elisa Fazzi; Romina Gallizzi; Mattia Gentile; Damir Loncarevic; Vlatka Mejaski-Bosnjak; Chiara Pantaleoni; Luciana Rigoli; Carmelo D Salpietro; Sabrina Signorini; Gilda Rita Stringini; Alain Verloes; Dominika Zabloka; Bruno Dallapiccola; Joseph G Gleeson; Enza Maria Valente
Journal: Hum Mutat Date: 2009-02 Impact factor: 4.878

3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

Authors: D Doherty; M A Parisi; L S Finn; M Gunay-Aygun; M Al-Mateen; D Bates; C Clericuzio; H Demir; M Dorschner; A J van Essen; W A Gahl; M Gentile; N T Gorden; A Hikida; D Knutzen; H Ozyurek; I Phelps; P Rosenthal; A Verloes; H Weigand; P F Chance; W B Dobyns; I A Glass
Journal: J Med Genet Date: 2009-07-01 Impact factor: 6.318

Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings.

1. Dealing with congenital hepatic fibrosis? Remember COACH syndrome.

2. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

3. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

4. Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

5. Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.

6. Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.