Microphthalmia with Linear Skin Defects (MLS) associated with Autism Spectrum Disorder (ASD) in a patient with Familial 12.9Mb Terminal Xp deletion

BACKGROUND: Microphthalmia with linear skin defects (MLS) syndrome is a rare X-linked dominant male-lethal developmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects of the face and neck. Additional features affecting the eyes, heart, brain or genitourinar...

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Pubblicato in:BMC Pediatr
Autori principali: Margari, Lucia, Colonna, Annalisa, Craig, Francesco, Gentile, Mattia, Giannella, Giustina, Lamanna, Anna Linda, Legrottaglie, Anna Rosi
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2014
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4236679/
https://ncbi.nlm.nih.gov/pubmed/25182979
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2431-14-220
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