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Research 30 of 164
- Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
- Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- Novel<i>PAX</i><i>9</i>mutation associated with syndromic tooth agenesis
- BG02: Muir‐Torre syndrome: a case of unusual coexisting genetic mutations
- Partial biotinidase deficiency: Clinical and biochemical features
- BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
- Biotin deficiency complicating parenteral alimentation: Diagnosis, metabolic repercussions, and treatment
- Gomez?Lopez?Hernandez syndrome: another consideration in focal congenital alopecia
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- <i>CCDC47</i> gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
- A Rare Case of Biotinidase Deficiancy
- Biotinidase Deficiency: A Treatable Neurometabolic Disorder- A Case Report
- Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in <i>WNT10A</i>
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Biotinidase deficiency: a survey of 10 cases.
- Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
- Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
- Bachmann–Bupp syndrome and treatment
- Biotinidase Enzyme Deficiency ( Case Report )
- Is the Loose Anagen Hair Syndrome a Keratin Disorder?
- Novel de novo pathogenic variant in the <i>ODC1</i> gene in a girl with developmental delay, alopecia, and dysmorphic features
- Biotin deficiency in an infant fed with amino acid formula and hypoallergenic rice
- Acute Hepatitis and Pancytopenia in a Child With Chronic Abuse of Senna
- The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report
- Pellagroid dermatitis during a ketogenic diet and anti-epileptic therapy.
- Fully functional hair follicle regeneration through the rearrangement of stem cells and their niches
- <i>WNT10A</i> , dermatology and dentistry
- A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia: Figure 1
- Novel missense mutation in the EDA gene in a family affected by oligodontia