12 citations
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January 2001 in “Der Hautarzt” This report on a 37-year-old patient found that trichorhinophalangeal syndrome type I is associated with hair abnormalities, including fine and brittle hair with altered biomechanical properties, but no treatment exists for the hair defects.
49 citations
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January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that Prss53-mutated rabbits exhibited curved hair and skeletal dyskinesia, suggesting a link between Prss53 loss and these traits, potentially involving disrupted calcium metabolism.
163 citations
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November 1976 in “Annals of Internal Medicine” This study found that adults with sickle cell anemia exhibited androgen deficiency due to primary testicular failure, and there was a significant correlation between erythrocyte zinc levels and serum testosterone.