Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
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4. FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes;Ballif;Eur J Hum Genet,2000
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2. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletion syndrome;Journal of American Association for Pediatric Ophthalmology and Strabismus;2021-12
3. Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2018-12-10
4. Generation and characterization of Megf6 null and Cre knock-in alleles;genesis;2018-11-29
5. Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review;Epilepsy Research;2018-01
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