Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf
Por um escritor misterioso
Last updated 20 setembro 2024
Dorsal (A) and palmar (B) view of the hands of the girl in Figure 1. Note clinodactyly, widened fingertips, and prominent joints.
A report and review of the recurrent c.811C>T variant and mutation spectrum of Kindler syndrome in East Asians: a diagnostic odyssey of 2 weeks versus 49 years
Genes, Free Full-Text
Pachyonychia Congenita Type PC-K6a: The first report in the Vietnamese population
Human temperature regulation under heat stress in health, disease, and injury
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability - ScienceDirect
PDF) A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report
Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery - Kerby C. Oberg, 2019
Genetics of Skin Cancer (PDQ®) - PDQ Cancer Information Summaries - NCBI Bookshelf
Thinking outside “The Box”: Case‐based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr - Sanchez‐Lara - 2021 - American Journal of Medical Genetics Part A
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