Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
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Last updated 24 maio 2024
Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)
L11. Anomalies of Facial Development Part I Flashcards
Figure 1. [Children with characteristic facial features of 7q11.23 duplication syndrome]. - GeneReviews® - NCBI Bookshelf
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Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance - Lehalle - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
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Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
Electrobehavioral phenotype and seizure pharmacosensitivity in a novel mouse model of patient-derived SLC6A1 S295L mutation-associated neurodevelopmental epilepsy
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