Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia-Reference-Cited by-同舟云学术

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Phenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia

Published:2023-02 Issue:2 Volume:66 Page:104692
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Geerts Chloé,Sznajer Yves,D'haenens Erika,Dumitriu Dana,Nassogne Marie-Cécile

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference21 articles.

1. Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy;Aldinger;Am. J. Hum. Genet.,2014

2. An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation;Ammari;J. Biochem. Clin. Genet.,2018

3. Cerebellar cysts and dysplasias: more diagnoses to consider;Banerjee;Pediatr. Neurol.,2019

4. Cerebellar cysts in children: a pattern recognition approach;Boltshauser;Cerebellum,2015

5. Ocular manifestations of poretti-boltshauser syndrome: findings from multimodal imaging and electrophysiology;Cai;Retin. Cases Brief Rep. Publish Ah,2020

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: An Adult Case of Poretti-Boltshauser Syndrome Diagnosed by Medical Checkup;The Cerebellum;2024-02-29

2. Case report: An adult case of Poretti-Boltshauser syndrome diagnosed by medical checkup.;2024-01-31

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