Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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2015年论文

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2015年论文

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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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P1476

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.

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P2093

Joseph Gerard Gleeson

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Manisha Goyal

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Rajiv Kapur

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Rama Krishna Sanjeev

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Seema Kapoor

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P2860

Joubert Syndrome and related disorders

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

Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

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

Ciliopathies: an expanding disease spectrum.

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

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

P304

385910

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P31

scholarly article

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10.1155/2015/385910

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P478

2015

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Rama Krishna Sanjeev

P577

2015-05-17T00:00:00Z

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P5875

277912154

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P698

26075130

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P932

4449927

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