Multiple congenital anomalies in two boys with mutation in HCFC1 and cobalamin disorder
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference17 articles.
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2. Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report;D'Alessandro;Minerva Stomatol.,2010
3. Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28;Frattini;Genomics,1994
4. Localization of the MRX3 gene for non-specific X linked mental retardation;Gedeon;J. Med. Genet.,1991
5. A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability;Huang;Am. J. Hum. Genet.,2012
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