Disease: Brachycephalofrontonasal dysplasia
- <em>SPECC1L</em> Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome
- A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant
- A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum
- A Novel Treatment of Nasal Stenosis Using Steel Gauging Earrings
- Absence of the RING domain in <em>MID1</em> results in patterning defects in the developing human brain
- Combined ultrasound and exome sequencing approach recognizes Opitz G/BBB syndrome in two malformed fetuses
- Dental treatment of a patient with Opitz G/BBB syndrome
- Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
- Genetic factors in isolated and syndromic laryngeal cleft
- Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene
- Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome
- Opitz GBBB syndrome with total anomalous pulmonary venous connection: A new MID1 gene variant
- Opitz syndrome: improving clinical interpretation of intronic variants in MID1 gene
- Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
- Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
- Reference ranges for standard-echocardiography in pugs and impact of clinical severity of Brachycephalic Obstructive Airway Syndrome (BOAS) on echocardiographic parameters
- Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz-GBBB syndrome: a case report
- Surgical management of penoscrotal hypospadias in a child with Opitz G/BBB syndrome: a case report
- Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. family
- Type 2 laryngeal cleft associated with OpitzG/BBB syndrome