Search

everythinglearnresearchcommunity

for

Search:↓

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Mutations in the KRT16 gene can cause skin and nail disorders.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

A specific genetic marker is linked to male pattern baldness in Han Chinese men.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

HLD10 can include increased body hair and Mongolian spots.

FGF13 gene changes cause excessive hair growth in a rare condition.

A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.

PRC2 is essential for maintaining intestinal cell balance and aiding regeneration after damage.

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

Two new gene mutations cause a rare hair disorder.

A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.