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Quoted phrase not found in phrase index: "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2"
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Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, cafe-au-lait spots, and metabolic abnormality.
Yang Q, Ou S, Zhou X, Yi S, Lin L, Yi S, Zhang S, Qin Z, Luo J. Yang Q, et al. Mol Genet Genomic Med. 2024 Feb;12(2):e2408. doi: 10.1002/mgg3.2408. Mol Genet Genomic Med. 2024. PMID: 38404251 Free PMC article.
BACKGROUND: TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities (MIM 619243), is a rare autosomal dominant genetic disease mainly characterized by facial dysmorphism, developmental …
BACKGROUND: TNRC6B deficiency syndrome, also known as global developmental delay with speech and behavioral abnormalities …
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.
Gripp KW, Zand DJ, Demmer L, Anderson CE, Dobyns WB, Zackai EH, Denenberg E, Jenny K, Stabley DL, Sol-Church K. Gripp KW, et al. Am J Med Genet A. 2013 Oct;161A(10):2420-30. doi: 10.1002/ajmg.a.36098. Epub 2013 Aug 5. Am J Med Genet A. 2013. PMID: 23918763 Free PMC article.
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features, cardiac abnormalities including pulmonic valve stenosis, ASD and hypertrophic cardiomyopathy (HCM), cryptorchidism, ectodermal …
Noonan syndrome is a heterogenous rasopathy typically presenting with short stature, characteristic facial features …
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant.
Liu L, Hu C, Chen Z, Zhu S, Zhu L. Liu L, et al. Am J Case Rep. 2023 Nov 29;24:e942377. doi: 10.12659/AJCR.942377. Am J Case Rep. 2023. PMID: 38019730 Free PMC article.
Variants in the SHOC2 gene have been reported in Noonan-like syndrome, which include distinct facial features, short stature, congenital cardiac defects, developmental delays, bleeding disorders, and loose anagen hair. ...At …
Variants in the SHOC2 gene have been reported in Noonan-like syndrome, which include distinct facial features, short …
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.
Grebe TA, Clericuzio C. Grebe TA, et al. Am J Med Genet. 2000 Nov 13;95(2):135-43. Am J Med Genet. 2000. PMID: 11078563
These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square …
These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short …