(Q34402069)

English

COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

congenital disorder

0 references

1 reference

based on heuristic

inferred from title

Congenital hepatic fibrosis

1 reference

based on heuristic

inferred from title

author name string

Gentile M

1

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Europe PubMed Central

PubMed publication ID

1 August 2017

Di Carlo A

2

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Europe PubMed Central

PubMed publication ID

1 August 2017

Susca F

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Gambotto A

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Caruso ML

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Panella C

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Vajro P

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Guanti G

8

1 reference

Europe PubMed Central

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1 August 2017

publication date

1 August 1996

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Europe PubMed Central

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1 August 2017

American Journal of Medical Genetics Part A

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Europe PubMed Central

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1 August 2017

64

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Europe PubMed Central

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1 August 2017

3

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PubMed publication ID

1 August 2017

514-520

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Europe PubMed Central

PubMed publication ID

1 August 2017

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960823%2964%3A3%3C514%3A%3AAID-AJMG13%3E3.0.CO%3B2-O

21 January 2018

Hypoplasia of Cerebellar Vermal Lobules VI and VII in Autism

1 reference

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21 January 2018

The Dandy-Walker and Arnold-Chiari malformations. Clinical, developmental, and teratological considerations

1 reference

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21 January 2018

Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly.

1 reference

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21 January 2018

Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome?

1 reference

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21 January 2018

Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome.

1 reference

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21 January 2018

Cystic dysplastic kidneys associated with Dandy-Walker malformation and congenital hepatic fibrosis. Report of two cases

1 reference

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21 January 2018

Chorioretinal coloboma and Joubert syndrome: a nonrandom association.

1 reference

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21 January 2018

Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders

1 reference

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21 January 2018

Polycystic kidney of autosomal dominant inheritance, polycystic liver and congenital hepatic fibrosis in a single kindred

1 reference

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21 January 2018

Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): a distinct clinicopathological entity

1 reference

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21 January 2018

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

1 reference

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21 January 2018

The Meckel syndrome: clinicopathological findings in 67 patients

1 reference

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21 January 2018

Joubert syndrome: a review

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960823%2964%3A3%3C514%3A%3AAID-AJMG13%3E3.0.CO%3B2-O

21 January 2018

Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients

1 reference

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21 January 2018

Dandy-Walker malformation in the Meckel syndrome

1 reference

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21 January 2018

An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.

1 reference

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21 January 2018

Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960823%2964%3A3%3C514%3A%3AAID-AJMG13%3E3.0.CO%3B2-O

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960823)64:3<514::AID-AJMG13>3.0.CO;2-O

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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