Publications by authors named "L Almli"

Article Synopsis
  • Primary congenital glaucoma (PCG) affects about 1 in 10,000 infants in the U.S. and has a genetic basis that is not fully understood, with CYP1B1 being the most commonly mutated gene.
  • * The study investigated the genetics of PCG by analyzing 37 family trios through exome sequencing, looking for genetic variants that might contribute to the condition.
  • * Results showed that while CYP1B1 was present in some cases, 32% of infants had potentially harmful variants in other genes related to eye development, suggesting more complex genetics behind PCG.
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Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.

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The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein-altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child-parent trios, one child-mother duo, and 1513 parents of children with other birth defects were analyzed. Most (91%) cases were isolated BA.

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Background: Few studies have evaluated birth defects among children of firefighters. We investigated associations between birth defects and paternal work as a firefighter compared to work in non-firefighting and police officer occupations.

Methods: We analyzed 1997-2011 data from the multi-site case-control National Birth Defects Prevention Study.

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Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit leading to vision loss. Although clinical case series suggest a strong genetic component in A/M, few systematic investigations have been conducted on potential genetic contributions owing to low population prevalence.

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