Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2008 1
2018 1
2020 2
2021 2
2022 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Congenital alacrima.
Zhao Z, Allen RC. Zhao Z, et al. Orbit. 2022 Apr;41(2):162-169. doi: 10.1080/01676830.2021.1974057. Epub 2021 Sep 5. Orbit. 2022. PMID: 34486478 Review.
The congenital absence of tear production or alacrima is a distinctively unusual clinical sign that harbors a wide variety of etiologies. ...Hence, the current article will review the ophthalmological findings, systemic manifestations, genetic associations, and diff …
The congenital absence of tear production or alacrima is a distinctively unusual clinical sign that harbors a wide variety of …
Diagnosis and genetics of alacrima.
Adams J, Schaaf CP. Adams J, et al. Clin Genet. 2018 Jul;94(1):54-60. doi: 10.1111/cge.13173. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29120068 Review.
There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Some manifest only the congenital absence of tears, while others affect multiple organ systems and may involve severe developmental delay, intellectual disability, and potential …
There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Some manifest only the congenital abs …
Disorders of adrenal development.
Ferraz-de-Souza B, Achermann JC. Ferraz-de-Souza B, et al. Endocr Dev. 2008;13:19-32. doi: 10.1159/000134753. Endocr Dev. 2008. PMID: 18493131 Review.
HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Achalasia, Addison disease), or as (3) a primary defect in the development of the adrenal gland itself (primary adrenal hypoplasia; e.g. ...
HESX1, LHX4, SOX3, TPIT, pituitary POMC, PC1); (2) as part of several ACTH resistance syndromes (e.g. MC2R/ACTHR, MRAP, Alacrima, Ach …
Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy.
Jayant SS, Gupta R, Agrawal K, Das L, Dutta P, Bhansali A. Jayant SS, et al. Hormones (Athens). 2021 Mar;20(1):197-205. doi: 10.1007/s42000-020-00217-7. Epub 2020 Jul 22. Hormones (Athens). 2021. PMID: 32700293 Review.
CASE PRESENTATION: We herein report a 19-year-old boy diagnosed with triple A syndrome (TAS), with the classic triad of ACTH-resistant adrenal insufficiency, achalasia, and alacrima. Additionally, he had distal spinal muscle amyotrophy. Alacrima was the earliest fea …
CASE PRESENTATION: We herein report a 19-year-old boy diagnosed with triple A syndrome (TAS), with the classic triad of ACTH-resistant adren …
Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty.
Abuduxikuer K, Zou L, Wang L, Chen L, Wang JS. Abuduxikuer K, et al. J Hum Genet. 2020 Apr;65(4):387-396. doi: 10.1038/s10038-019-0719-9. Epub 2020 Jan 21. J Hum Genet. 2020. PMID: 31965062 Review.
NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation (NGLY1-CDDG). To date, no patients with NGLY1 deficiency has been reported from mainland China or East Asia in English literature. ...
NGLY1 deficiency is the first and only autosomal recessive congenital disorder of N-linked deglycosylation (NGLY1-CDDG). To date, no …
Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.
Inan UU, Yilmaz MD, Demir Y, Degirmenci B, Ermis SS, Ozturk F. Inan UU, et al. Int J Pediatr Otorhinolaryngol. 2006 Jul;70(7):1307-14. doi: 10.1016/j.ijporl.2005.12.015. Epub 2006 Feb 7. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16460812 Review.
A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, …
A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrim