Definition of Arhinia. Meaning of Arhinia. Synonyms of Arhinia

Here you will find one or more explanations in English for the word Arhinia. Also in the bottom left of the page several parts of wikipedia pages related to the word Arhinia and, of course, Arhinia synonyms and on the right images related to the word Arhinia.

Definition of Arhinia

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Meaning of Arhinia from wikipedia

- Arrhinia (alternatively spelled "arhinia") is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with...
- Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) SMCHD1 AD Bosma arhinia microphthalmia syndrome (BAMS) TFAP2A AD Branchio-oculo-facial syndrome...
- malabsorption, a gut-related problem Bosma arhinia microphthalmia, an extremely rare genetic disorder in which both arhinia and microphthalmia are present Bamlanivimab...
- Argininosuccinate synthetase deficiency Argininosuccinic aciduria Argyria Arhinia Arhinia choanal atresia microphthalmia Arnold–Stickler–Bourne syndrome Arnold–Chiari...
- development of facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS). Without maternal SMCHD1 in the egg cell...
- ****ociated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome". Nature Genetics. 49 (2): 238–248. doi:10...
- chromosome 18. Specific mutations of SMCHD1 are also ****ociated with Bosma arhinia and microphtalmia syndrome. Another cause of FSHD2 is mutation in DNMT3B...
- requiring facial reconstruction, such as those with microtia or bosma arhinia microphthalmia syndrome. The Healing Foundation funded research programs...
- Gökhan; et al. (2017-01-09). "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development" (PDF). Nature Genetics...