
Branchio Oculo Facial Syndrome - Symptoms, Causes, Treatment
2018年11月21日 · Branchio-oculo-facial syndrome (BOFS) is a rare genetic disorder with defects of the head and neck that are apparent at birth (congenital) and usually diagnosed in …
Branchio-oculo-facial syndrome - Wikipedia
Branchio-oculo-facial syndrome (BOFS) [1] is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's …
Bofa - Urban Dictionary
2018年7月28日 · Bofa is a non-destructive disease preceding ligma. No-one knows the exact cause of bofa, however some studies show that it can be closely related to Twitch streaming. …
Branchiooculofacial Syndrome - GeneReviews® - NCBI Bookshelf
2011年5月31日 · Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch …
Branchio-oculo-facial syndrome - MedlinePlus
Branchio-oculo-facial syndrome is a condition that affects development before birth, particularly of structures in the face and neck. Its characteristic features include skin anomalies on the neck, …
Branchiooculofacial Syndrome | Hereditary Ocular Diseases
Kidney malformations and dysfunction have been documented. Mental function is usually normal. Preaxial polydactyly is an uncommon feature. This is an autosomal dominant disorder …
Branchiooculofacial Syndrome - PubMed
Clinical characteristics: Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or …
Branchiooculofacial syndrome - NIH Genetic Testing Registry …
Branchiooculofacial syndrome (BOFS) is characterized by branchial (cervical or infra- or supra-auricular) skin defects that range from barely perceptible thin skin or hair patch to …
Blepharonasofacial malformation syndrome | About the Disease …
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, …
Branchiooculofacial Syndrome - MalaCards
Branchiooculofacial syndrome (BOFS) is a rare genetic disorder characterized by branchial cleft sinus defects, ocular anomalies like microphthalmia, and facial abnormalities such as cleft …