Autosomal recessive cutis laxa Type II: Report of novel mutation in a child
Rakesh Kumar, Sheetal Sharda, Vimlesh Soni and 1 more
Indian Dermatology Online Journal · 2017
doi:10.4103/idoj.idoj_334_16 (opens in a new tab)
We email you when a new notice or a question about this paper appears.
Abstract
Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities. We report the case of a 14-month-old boy with developmental delay, hypotonia, dysmorphism, and loose skin. A novel homozygous variant was observed in ATP6VOA2 gene. Clinical spectrum of ARCLII is highly heterogeneous and molecular analysis should be done to confirm the diagnosis.
Abstract licence: CC BY-NC-SA
Reads
Read by people on this page
None yet.
Checked or read by AI through naulon
None yet.
A person counts once a day per paper. We keep no cookie and no address: a reader is a hash that changes every day. Any month under five reads shows no number.
Are you an author?
Is this your paper?
Claim it to add your note and be paid when agents cite it. Free.