American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Neonatal CNS Human Parechovirus Infections in Western Pennsylvania in the 2024 Season. [PDF]
J Med VirolYovel G +6 more
europepmc +1 more source
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source
Adherence to Pediatric Ophthalmology Follow-Up After Completion of Retinopathy of Prematurity: A Retrospective Review. [PDF]
Patient Prefer AdherenceXing SX +7 more
europepmc +1 more source
Clinical utility of echocardiography in bronchopulmonary dysplasia: a retrospective cohort study. [PDF]
J Pediatr (Rio J)Huang L +5 more
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Enjoying the Free Menu? Discoursing the Barriers to Exclusive Breastfeeding for Improved Maternal and Child Health in Tanzania: A Review of Evidence. [PDF]
Health Sci RepMpambije CJ.
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Variations in face experiences during the COVID-19 pandemic affect infants' preference for their mother's face. [PDF]
PLoS OneKobayashi M +3 more
europepmc +1 more source
Prevalence, perinatal risk factors and clinical outcomes of respiratory <i>Ureaplasma</i> species colonization in hospitalized preterm infants. [PDF]
Front PediatrYang X, Mu S, Du X, Zhang L, Ding X.
europepmc +1 more source