Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations-Reference-Cited by-同舟云学术

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Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations

Published:2002-02-01 Issue:2 Volume:39 Page:6e-6
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:
Short-container-title:

Author:

Barbi G

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Cited by 17 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. Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families;BMC Medical Genomics;2024-07-02

2. Distinctive Craniofacial and Oral Anomalies in MN1 C-terminal Truncation Syndrome;CHIN J DENT RES;2024

3. Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy;Molecular Syndromology;2023

4. Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1;Journal of Human Genetics;2022-08-15

5. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis;Brain;2019-12-13

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