A Term Neonate with Ambiguous Genitalia
Author:
Affiliation:
1. *Department of Pediatrics, Military Hospital, Hisar, India
2. †Department of Pediatrics, Army Hospital (Research and Referral), New Delhi, India
Publisher
American Academy of Pediatrics (AAP)
Link
https://publications.aap.org/neoreviews/article-pdf/25/7/e438/1670917/neoreviews.082023iositn00137.pdf
Reference5 articles.
1. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation;Cormier-Daire;J Med Genet,2000
2. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome;Szakszon;Am J Med Genet A,2013
3. Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?;Lonardo;Clin Genet,2019
4. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms;Campeau;Hum Mutat,2013
5. Genitopatellar syndrome: the first reported case in Japan;Kano;Hum Genome Var,2018
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