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
2014 1
2019 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Developmental delay with short stature, dysmorphic facial features, and sparse hair"
Page 1
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, and dry skin. ...A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anoma …
He had facial and skin findings compatible with trichothiodystrophy, including sparse and brittle hair, thin eyebrows, …
Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.
Zmolikova M, Puchmajerova A, Hecht P, Lebl J, Trkova M, Krepelova A. Zmolikova M, et al. Am J Med Genet A. 2014 May;164A(5):1218-21. doi: 10.1002/ajmg.a.36404. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458596
This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical abnormal hair. ...Short stature, relative macrocephaly, failure-to-thrive together with dystrophic appearance, develop …
This condition is characterized by facial features similar to Noonan syndrome, reduced growth, cardiac defects, and typical ab …