Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature
نویسندگان
چکیده
منابع مشابه
Cleidocranial dysplasia: a rare cause of disproportionate severe short stature.
Skeletal dysplasia is an uncommon cause of short stature in children. An 11-year-old girl was evaluated for severe short stature in a tertiary care hospital. Clinical examination revealed severe disproportionate short stature and classical triad of multiple supernumerary teeth, and complete absence of clavicles and open sagittal sutures and fontanelles. Skeletal survey confirmed these findings,...
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DYT1 early-onset primary dystonia (DYT1) is a well-described dystonia caused by an in-frame GAG nucleotide deletion in the TOR1A gene, c.907_909delGAG. The only phenotype linked to TOR1A is dystonia. Homozygous GAG deletions or compound heterozygosity for mutations in TOR1A have never been reported in humans. Arthrogryposis, defined as multiple congenital contractures, affects 1 in 3,000–5,000 ...
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چکیده ندارد.
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature, accelerated skeletal maturation, and joint disease. The inheritance pattern and the presence of bone age equal to or greater than chronological age have been consistent featu...
متن کاملHereditary ectodermal dysplasia, olivopontocerebellar degeneration, short stature, and hypogonadism.
Two teenaged children born of normal parents in a consanguineous family had evidence of abnormal neurological, endocrine, and ectodermal development. They had mental retardation, hearing loss, ocular dysmetria, hyperreflexia, and ataxia consistent with olivopontocerebellar degeneration. They had hypogonadotrophic hypogonadism and extremely short stature despite normal serum growth hormone and s...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2020
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.24139