Add to ORKGBohring-Opitz syndrome (BOS) is a rare genetic disorder, characterized by feeding difficulties, developmental delay, microcephaly, micrognathia, limb anomalies, and typical phenotypic facial features. The cause of the syndrome is identified as de novo heterogeneous mutations in the ASXL1 gene, but other mutations have been described in some patients. Most patients die in early childhood due to infections and comorbidities. As molecular confirmation by genetic studies is not always possible, this syndrome is diagnosed on the basis of distinctive clinical features. We report a case of the 6-month-old male child having gastroesophageal reflux and physical features of microcephaly, sloping forehead, sparse hair, craniosynostosis, telecanthus, h...
Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malform...
Chediak Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder that arises d...
Peutz - jegher’s syndrome (PJS) is a rare autosomal dominant disorder with gastro intestinal and muc...
Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four...
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians f...
We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristi...
In 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrom...
IF 5.451International audienceBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised...
BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes tha...
Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malform...
Chediak Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder that arises d...
Peutz - jegher’s syndrome (PJS) is a rare autosomal dominant disorder with gastro intestinal and muc...
Bohring–Opitz syndrome (BOS) was first described by Bohring et al. [1999]. The authors reported four...
The diagnostic challenge of Bohring-Opitz Syndrome, a rare genetic disorder has haunted clinicians f...
We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristi...
In 1999, Bohring et al. reported a new syndrome clinically distinguishable from cases with C syndrom...
IF 5.451International audienceBohring-Opitz syndrome (BOS) is a rare genetic disorder characterised...
BACKGROUND: Molecular diagnostics can resolve locus heterogeneity underlying clinical phenotypes tha...
Bohring-Opitz syndrome (BOS) is a rare condition characterized by facial anomalies, multiple malform...
Chediak Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder that arises d...
Peutz - jegher’s syndrome (PJS) is a rare autosomal dominant disorder with gastro intestinal and muc...