Add to ORKGMutrations in the C16orf57 gene cause Poikiloderma with Neutropenia syndrome (PN OMIM #604173) a rare autosomic recessive genodermatosis characterized by persistent neutropenia, pachyonychia, palmo- plantar hyperkeratosis and high susceptibility in myelodisplasi
BACKGROUND Poikiloderma is defined as a chronic skin condition presenting with a combination of p...
This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Mole...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...
We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) s...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Background: Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused b...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of ...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma,...
International audienceThree siblings from Morocco consanguineous family presented with cutaneous poi...
Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikilode...
AbstractPoikiloderma with neutropenia (PN, Clericuzio-type poikiloderma with neutropenia) is a rare ...
International audienceDear Editor, Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopa...
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a re...
BACKGROUND Poikiloderma is defined as a chronic skin condition presenting with a combination of p...
This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Mole...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...
We report on three sibs who have autosomal recessive Clericuzio-type poikiloderma neutropenia (PN) s...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Background: Poikiloderma with Neutropenia (PN) is a rare autosomal recessive genodermatosis caused b...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of ...
Next-generation sequencing is a straightforward tool for the identification of disease genes in exte...
Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma,...
International audienceThree siblings from Morocco consanguineous family presented with cutaneous poi...
Poikiloderma with neutropenia (PN) is a very rare genetic disorder mainly characterized by poikilode...
AbstractPoikiloderma with neutropenia (PN, Clericuzio-type poikiloderma with neutropenia) is a rare ...
International audienceDear Editor, Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopa...
Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a re...
BACKGROUND Poikiloderma is defined as a chronic skin condition presenting with a combination of p...
This is a pre-copy-editing, author-produced PDF of an article accepted for publication in Human Mole...
Pompe disease is caused by mutations in the acid alpha- glucosidase (GAA) gene. Multiple kinds of mu...