December 2023 in “The Sri Lanka Journal of Dermatology” In this case report, a 12-year-old girl was diagnosed with alopecia as part of the rare ALX4-related frontonasal dysplasia sequence, highlighting the condition's uniqueness in pediatric dermatology.
October 2024 in “Developmental Dynamics” This paper highlights advances in Developmental Dynamics, noting how epoa-deficient zebrafish can model Diamond-Blackfan anemia like disorders for drug screening, Alx4 mouse models offer insights into craniofacial development, and mTORC1 signaling is crucial for retinal development.
19 citations
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December 2015 in “European Journal of Human Genetics” This study found that a novel rare variant in ITGB6 may cause intellectual disability, alopecia, and dentogingival anomalies in a specific Pakistani family, highlighting a potential role for ITGB6 beyond enamel formation.
7 citations
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May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
February 2022 in “Research Square (Research Square)” This study identified candidate genes related to hair follicle development in Merino sheep, providing insights for improving sheep wool quality and potentially understanding human hair growth mechanisms.